ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg)

gnomAD frequency: 0.00001  dbSNP: rs193922389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586251 SCV000696350 uncertain significance not specified 2016-06-01 criteria provided, single submitter clinical testing Variant summary: The MYH7 c.3781A>C (p.Ser1261Arg) variant causes a missense change involving a non-conserved nucleotide with 3/4 in silico tools (Mutation Taster not captured here due to low p-value) predicting a "deleterious" outcome, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications and/or databases. Other missense changes around this codon such as p.R1277Q, p.L1273P, p.A1263E have been reported in HCM patients (ref. HGMD), indicating that the region may be functionally important. Taken together, this variant has currently been classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Invitae RCV000628858 SCV000749766 uncertain significance Hypertrophic cardiomyopathy 2022-03-08 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. An algorithm developed specifically for the MYH7 gene suggests that this missense change is likely to be tolerated (PMID: 21310275). ClinVar contains an entry for this variant (Variation ID: 36639). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1261 of the MYH7 protein (p.Ser1261Arg).
Color Diagnostics, LLC DBA Color Health RCV001179057 SCV001343638 uncertain significance Cardiomyopathy 2023-11-15 criteria provided, single submitter clinical testing This missense variant replaces serine with arginine at codon 1261 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. 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.

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