ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.241C>T (p.Pro81Ser)

gnomAD frequency: 0.00008  dbSNP: rs1489940065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224750 SCV001396969 uncertain significance Hypertrophic cardiomyopathy 2022-03-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 952611). This missense change has been observed in individual(s) with dilated cardiomyopathy or hypertrophic cardiomyopathy (PMID: 21750094). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 81 of the MYH7 protein (p.Pro81Ser).
GeneDx RCV001813816 SCV002061047 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing Reported in a patient with dilated cardiomyopathy in the published literature (Waldmuller et al., 2011); 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: 21750094)
Color Diagnostics, LLC DBA Color Health RCV003532904 SCV004356979 uncertain significance Cardiomyopathy 2024-01-03 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 81 of the MYH7 protein. Computational prediction tools indicate that this variant has a deleterious impact on protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with dilated cardiomyopathy (PMID: 21750094). This variant has been identified in 7/251456 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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