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 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 807075). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. 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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