ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.178C>T (p.Arg60Trp)

gnomAD frequency: 0.00006  dbSNP: rs139447728
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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 RCV001927275 SCV002161805 uncertain significance Hyperprolinemia type 2 2021-07-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 60 of the ALDH4A1 protein (p.Arg60Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ALDH4A1-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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