ClinVar Miner

Submissions for variant NM_001001331.4(ATP2B2):c.1331T>C (p.Phe444Ser)

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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 RCV003023972 SCV003329764 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 399 of the ATP2B2 protein (p.Phe399Ser). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP2B2 protein function. This variant has not been reported in the literature in individuals affected with ATP2B2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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