ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val)

gnomAD frequency: 0.00002  dbSNP: rs772242880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055612 SCV001220012 uncertain significance Brody myopathy 2021-08-30 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: 851255). This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. This variant is present in population databases (rs772242880, ExAC 0.01%). This sequence change replaces leucine with valine at codon 904 of the ATP2A1 protein (p.Leu904Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine.
GeneDx RCV001760001 SCV001999650 uncertain significance not provided 2019-12-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Revvity Omics, Revvity Omics RCV001055612 SCV003834346 uncertain significance Brody myopathy 2019-01-09 criteria provided, single submitter clinical testing

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