ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu)

gnomAD frequency: 0.00001  dbSNP: rs767570086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858808 SCV002219124 uncertain significance Hypertrophic cardiomyopathy 14 2021-08-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 807075). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant is present in population databases (rs767570086, ExAC 0.02%). This sequence change replaces serine with leucine at codon 1301 of the MYH6 protein (p.Ser1301Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine.
Fulgent Genetics, Fulgent Genetics RCV002497299 SCV002787341 uncertain significance Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2021-07-22 criteria provided, single submitter clinical testing

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