ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)

dbSNP: rs774949844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000236842 SCV000256844 pathogenic Propionic acidemia 2014-01-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000236842 SCV003442243 uncertain significance Propionic acidemia 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 688 of the PCCA protein (p.Cys688Arg). This variant is present in population databases (rs774949844, gnomAD 0.0009%). This missense change has been observed in individual(s) with propionic acidemia (PMID: 27227689). ClinVar contains an entry for this variant (Variation ID: 218253). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PCCA protein function. 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.
Revvity Omics, Revvity RCV000236842 SCV003812336 uncertain significance Propionic acidemia 2023-06-02 criteria provided, single submitter clinical testing

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