U.S. flag

An official website of the United States government

NM_001378969.1(KCND3):c.1256G>A (p.Arg419His) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 20, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000420331.2

Allele description [Variation Report for NM_001378969.1(KCND3):c.1256G>A (p.Arg419His)]

NM_001378969.1(KCND3):c.1256G>A (p.Arg419His)

Gene:
KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.2
Genomic location:
Preferred name:
NM_001378969.1(KCND3):c.1256G>A (p.Arg419His)
HGVS:
  • NC_000001.11:g.111786957C>T
  • NG_032011.2:g.207199G>A
  • NM_001378969.1:c.1256G>AMANE SELECT
  • NM_001378970.1:c.1256G>A
  • NM_004980.5:c.1256G>A
  • NM_172198.3:c.1256G>A
  • NP_001365898.1:p.Arg419His
  • NP_001365899.1:p.Arg419His
  • NP_004971.2:p.Arg419His
  • NP_004971.2:p.Arg419His
  • NP_751948.1:p.Arg419His
  • LRG_445t1:c.1256G>A
  • LRG_445:g.207199G>A
  • LRG_445p1:p.Arg419His
  • NC_000001.10:g.112329579C>T
  • NM_004980.4:c.1256G>A
Protein change:
R419H
Links:
dbSNP: rs774338559
NCBI 1000 Genomes Browser:
rs774338559
Molecular consequence:
  • NM_001378969.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378970.1:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004980.5:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172198.3:c.1256G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536443GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 7, 2018) 		germlineclinical testing

Citation Link,

SCV002501641AiLife Diagnostics, AiLife Diagnostics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 20, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000536443.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R419H variant in the KCND3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R419H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R419H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R419H as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From AiLife Diagnostics, AiLife Diagnostics, SCV002501641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: May 1, 2024