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NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu) AND Charcot-Marie-Tooth disease X-linked dominant 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 8, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002275606.1

Allele description [Variation Report for NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu)]

NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu)

Gene:
PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.11
Genomic location:
Preferred name:
NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu)
HGVS:
  • NC_000023.11:g.24534038C>T
  • NG_016762.1:g.73812C>T
  • NM_001142386.3:c.1187C>T
  • NM_005391.5:c.1187C>TMANE SELECT
  • NP_001135858.1:p.Pro396Leu
  • NP_005382.1:p.Pro396Leu
  • NC_000023.10:g.24552155C>T
  • NM_005391.4:c.1187C>T
Protein change:
P396L
Links:
dbSNP: rs761831322
NCBI 1000 Genomes Browser:
rs761831322
Molecular consequence:
  • NM_001142386.3:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005391.5:c.1187C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Charcot-Marie-Tooth disease X-linked dominant 6
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6
Identifiers:
MONDO: MONDO:0010479; MedGen: C3806702; Orphanet: 352675; OMIM: 300905

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002564245New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Oct 8, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002564245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023