ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp)

gnomAD frequency: 0.00004  dbSNP: rs376705845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001134774 SCV001294529 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Institute of Human Genetics, University of Goettingen RCV001134774 SCV001486205 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2021-03-05 criteria provided, single submitter clinical testing This variant is absent from control studies, it is predicted to be damaging as it affects a highly conserved aminoacid in a functional domain of the protein. In summary and using ACMG criteria PM2, PP3, BP1 we classify this variant as variant of unknown clinical significance.
GeneDx RCV001560423 SCV001782836 uncertain significance not provided 2021-05-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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