ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1519G>A (p.Val507Met)

gnomAD frequency: 0.00010  dbSNP: rs146061036
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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 RCV001206333 SCV001377636 uncertain significance Propionic acidemia 2022-04-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 507 of the PCCA protein (p.Val507Met). This variant is present in population databases (rs146061036, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PCCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 937344). 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: "Benign"; Align-GVGD: "Class C15"). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004792792 SCV005409625 uncertain significance not provided 2024-03-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001206333 SCV002094978 uncertain significance Propionic acidemia 2021-04-20 no assertion criteria provided clinical testing

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