ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.947T>A (p.Met316Lys)

dbSNP: rs137861347
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586456 SCV000696479 uncertain significance not provided 2016-02-29 criteria provided, single submitter clinical testing
GeneDx RCV000586456 SCV001773646 likely pathogenic not provided 2021-03-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV001853980 SCV002258578 uncertain significance Propionic acidemia 2021-02-13 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. 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 PCCA protein function. This variant has been observed in individual(s) with propionic acidemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 495792). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with lysine at codon 316 of the PCCA protein (p.Met316Lys). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and lysine.

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