NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 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:: RCV002338682.2

Allele description [Variation Report for NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)]

NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)

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.4828C>T (p.Arg1610Cys)

HGVS:

NC_000014.9:g.23386446G>A
NG_023444.1:g.26832C>T
NM_002471.4:c.4828C>TMANE SELECT
NP_002462.2:p.Arg1610Cys
NP_002462.2:p.Arg1610Cys
LRG_389t1:c.4828C>T
LRG_389:g.26832C>T
LRG_389p1:p.Arg1610Cys
NC_000014.8:g.23855655G>A
NM_002471.3:c.4828C>T

Protein change:

R1610C

Links:

dbSNP: rs780726611

NCBI 1000 Genomes Browser:

rs780726611

Molecular consequence:

NM_002471.4:c.4828C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002639184	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 7, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 28991257, 30471092, 32746448, 34088380 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002639184

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 7, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, et al.

Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9.

PubMed [citation]

PMID:: 28991257
PMCID:: PMC5675000

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Richard P, Ader F, Roux M, Donal E, Eicher JC, Aoutil N, Huttin O, Selton-Suty C, Coisne D, Jondeau G, Damy T, Mansencal N, Casalta AC, Michel N, Haentjens J, Faivre L, Lavoute C, Nguyen K, Tregouët DA, Habib G, Charron P.

Clin Genet. 2019 Mar;95(3):356-367. doi: 10.1111/cge.13484. Epub 2018 Dec 27.

PubMed [citation]

PMID:: 30471092

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002639184.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The p.R1610C variant (also known as c.4828C>T), located in coding exon 31 of the MYH6 gene, results from a C to T substitution at nucleotide position 4828. The arginine at codon 1610 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was reported in a congenital heart defect exome cohort, in one individual who had atrial and septal cardiac defects (Jin SC et al. Nat. Genet., 2017 Nov;49:1593-1601). 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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