ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)

dbSNP: rs730880800
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158653 SCV000208588 uncertain significance not provided 2022-06-08 criteria provided, single submitter clinical testing This variant has been reported in association with DCM and HCM in the published literature (PMID: 27532257) (PMID:28416588) (PMID:24119082) (PMID:2170094) (PMID:31514951); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28416588, 24119082, 21750094, 27532257, 31514951)
Invitae RCV000466942 SCV000546182 pathogenic Hypertrophic cardiomyopathy 2023-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1434 of the MYH7 protein (p.Arg1434Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hypertrophic cardiomyopathy and dilated cardiomyopathy (PMID: 21750094, 24119082, 27532257; Invitae). ClinVar contains an entry for this variant (Variation ID: 181254). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYH7 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV001180570 SCV001345528 uncertain significance Cardiomyopathy 2019-08-30 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 1434 of the MYH7 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in individuals affected with hypertrophic cardiomyopathy and dilated cardiomyopathy (PMID: 21750094, 24119082, 27532257). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000158653 SCV004238297 likely pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing

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