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NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 23, 2022
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:
RCV002339390.3

Allele description [Variation Report for NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)]

NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)

Genes:
LOC126861896:BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 [Gene]
MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)
HGVS:
  • NC_000014.9:g.23386589C>A
  • NG_023444.1:g.26689G>T
  • NM_002471.4:c.4685G>TMANE SELECT
  • NP_002462.2:p.Arg1562Leu
  • LRG_389t1:c.4685G>T
  • LRG_389:g.26689G>T
  • NC_000014.8:g.23855798C>A
  • NM_002471.3:c.4685G>T
Protein change:
R1562L
Links:
dbSNP: rs371068881
NCBI 1000 Genomes Browser:
rs371068881
Molecular consequence:
  • NM_002471.4:c.4685G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002636281Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 23, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I, Mates J, Yotti R, Espinosa MA, Pérez-Serra A, Fernandez-Avila AI, Coll M, Méndez I, Iglesias A, Del Olmo B, Riuró H, Cuenca S, Allegue C, Campuzano O, Picó F, Ferrer-Costa C, Álvarez P, Castillo S, Garcia-Pavia P, Gonzalez-Lopez E, Padron-Barthe L, Díaz de Bustamante A, et al.

PLoS One. 2017;12(8):e0181465. doi: 10.1371/journal.pone.0181465.

PubMed [citation]
PMID:
28771489
PMCID:
PMC5542623

Details of each submission

From Ambry Genetics, SCV002636281.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.R1562L variant (also known as c.4685G>T), located in coding exon 31 of the MYH6 gene, results from a G to T substitution at nucleotide position 4685. The arginine at codon 1562 is replaced by leucine, an amino acid with dissimilar properties. A different variant affecting this codon (p.R1562W, c.4684C>T) has been detected in a hypertrophic cardiomyopathy cohort; however, details were limited (Mademont-Soler I et al. PLoS ONE, 2017 Aug;12:e0181465). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024