ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.611C>T (p.Ala204Val)

dbSNP: rs760499581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664635 SCV000788633 uncertain significance Propionic acidemia 2017-12-27 criteria provided, single submitter clinical testing
Mendelics RCV000664635 SCV001136608 uncertain significance Propionic acidemia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000664635 SCV004293512 likely pathogenic Propionic acidemia 2023-09-14 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 204 of the PCCB protein (p.Ala204Val). This variant is present in population databases (rs760499581, gnomAD 0.009%). This missense change has been observed in individual(s) with propionic acidemia (PMID: 28853722). ClinVar contains an entry for this variant (Variation ID: 203889). 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 PCCB protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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