ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)

dbSNP: rs886041117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000258939 SCV004294124 uncertain significance 3-methylglutaconic aciduria, type VIIB 2022-11-08 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 279605). This missense change has been observed in individual(s) with CLPB-related conditions (PMID: 26916670). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 269 of the CLPB protein (p.Ala269Thr).
GeneReviews RCV000258939 SCV000328961 not provided 3-methylglutaconic aciduria, type VIIB no assertion provided literature only

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