ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)

dbSNP: rs753356694
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001132286 SCV001291941 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197065 SCV001367700 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2018-11-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375401 SCV001571882 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
GeneDx RCV001559437 SCV001781661 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001559437 SCV002175933 uncertain significance not provided 2023-10-08 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 826 of the MYH14 protein (p.Arg826Cys). This variant is present in population databases (rs753356694, gnomAD 0.01%). This missense change has been observed in individual(s) with deafness (PMID: 27393652). This variant is also known as c.2599C>T (p.R867C). ClinVar contains an entry for this variant (Variation ID: 893634). 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 MYH14 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001559437 SCV005409974 uncertain significance not provided 2023-07-13 criteria provided, single submitter clinical testing BS2

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