U.S. flag

An official website of the United States government

NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 25, 2023
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:
RCV002450865.3

Allele description [Variation Report for NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)]

NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)

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.3583C>T (p.Arg1195Cys)
HGVS:
  • NC_000014.9:g.23390206G>A
  • NG_023444.1:g.23072C>T
  • NM_002471.4:c.3583C>TMANE SELECT
  • NP_002462.2:p.Arg1195Cys
  • NP_002462.2:p.Arg1195Cys
  • LRG_389t1:c.3583C>T
  • LRG_389:g.23072C>T
  • LRG_389p1:p.Arg1195Cys
  • NC_000014.8:g.23859415G>A
  • NM_002471.3:c.3583C>T
Protein change:
R1195C
Links:
dbSNP: rs769756450
NCBI 1000 Genomes Browser:
rs769756450
Molecular consequence:
  • NM_002471.4:c.3583C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV002613611Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 25, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002613611.3

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

Description

The p.R1195C variant (also known as c.3583C>T), located in coding exon 24 of the MYH6 gene, results from a C to T substitution at nucleotide position 3583. The arginine at codon 1195 is replaced by cysteine, an amino acid with highly dissimilar properties. This missense alteration is located in a region that has a low rate of benign missense variation (Lek M et al. Nature. 2016 Aug 18;536(7616):285-91; DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth H.V. et al. 2009. Am.J.Hum.Genet. 84, 524-533 (DOI:dx.doi.org/10/1016/j.ajhg.2009.03.010)). 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: Mar 5, 2025