ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)

gnomAD frequency: 0.00002  dbSNP: rs773749632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329771 SCV001521298 uncertain significance Propionic acidemia 2019-09-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001329771 SCV002293372 uncertain significance Propionic acidemia 2022-09-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 270 of the PCCA protein (p.Ile270Thr). This variant is present in population databases (rs773749632, gnomAD 0.02%). This missense change has been observed in individual(s) with propionic acidemia (PMID: 29978829). ClinVar contains an entry for this variant (Variation ID: 1028666). 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. 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.

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