ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly)

dbSNP: rs2100625391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001917651 SCV002172218 uncertain significance Hyperprolinemia type 2 2021-02-08 criteria provided, single submitter clinical testing 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. 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: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ALDH4A1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with glycine at codon 15 of the ALDH4A1 protein (p.Arg15Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine.

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