ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)

dbSNP: rs28940589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002175 SCV004294881 pathogenic Pyruvate carboxylase deficiency 2023-01-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 610 of the PC protein (p.Ala610Thr). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 2094). This missense change has been observed in individual(s) with pyruvate carboxylase deficiency (PMID: 9585612, 30870574). This variant is present in population databases (rs28940589, gnomAD 0.0009%).
OMIM RCV000002175 SCV000022333 pathogenic Pyruvate carboxylase deficiency 1998-06-01 no assertion criteria provided literature only

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