ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.929C>T (p.Ala310Val)

dbSNP: rs146927771
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695290 SCV000823779 uncertain significance Propionic acidemia 2022-09-12 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 310 of the PCCA protein (p.Ala310Val). This variant is present in population databases (rs146927771, gnomAD 0.01%). This missense change has been observed in individual(s) with a positive newborn screening result for PCCA-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 573583). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002532289 SCV003630159 uncertain significance Inborn genetic diseases 2022-05-31 criteria provided, single submitter clinical testing The c.929C>T (p.A310V) alteration is located in exon 12 (coding exon 12) of the PCCA gene. This alteration results from a C to T substitution at nucleotide position 929, causing the alanine (A) at amino acid position 310 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000695290 SCV001463915 uncertain significance Propionic acidemia 2020-04-17 no assertion criteria provided clinical testing

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