ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2750C>G (p.Ser917Cys)

dbSNP: rs1555517373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543435 SCV000638294 uncertain significance Brody myopathy 2020-02-06 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on ATP2A1 function. The available evidence is currently insufficient to determine its role 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with an ATP2A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 917 of the ATP2A1 protein (p.Ser917Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine.

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