ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)

gnomAD frequency: 0.00001  dbSNP: rs1191592329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203367 SCV001374529 uncertain significance 3-methylglutaconic aciduria, type VIIB 2019-09-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 119 of the CLPB protein (p.Ala119Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CLPB-related conditions. 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: "Possibly 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.

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