ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys)

gnomAD frequency: 0.00001  dbSNP: rs746571601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687985 SCV000815580 uncertain significance Hypertrophic cardiomyopathy 2023-12-12 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 1608 of the MYH7 protein (p.Arg1608Cys). This variant is present in population databases (rs746571601, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 567807). 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%. 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.
Genetics and Genomics Program, Sidra Medicine RCV001293065 SCV001434047 uncertain significance Primary dilated cardiomyopathy criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001525309 SCV001735369 uncertain significance Cardiomyopathy 2021-11-03 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 1608 of the MYH7 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/251492 chromosomes 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.

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