ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val)

gnomAD frequency: 0.00018  dbSNP: rs150403167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240041 SCV001412962 uncertain significance Brody myopathy 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 43 of the ATP2A1 protein (p.Ala43Val). This variant is present in population databases (rs150403167, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ATP2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 965556). 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"). 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.
GeneDx RCV002265014 SCV002547264 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002567942 SCV003688791 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.128C>T (p.A43V) alteration is located in exon 2 (coding exon 2) of the ATP2A1 gene. This alteration results from a C to T substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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