ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.67C>T (p.Arg23Trp)

gnomAD frequency: 0.00006  dbSNP: rs778225599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001898589 SCV002158504 uncertain significance Hyperprolinemia type 2 2022-12-28 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1394662). This variant has not been reported in the literature in individuals affected with ALDH4A1-related conditions. This variant is present in population databases (rs778225599, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 23 of the ALDH4A1 protein (p.Arg23Trp).
Ambry Genetics RCV004041529 SCV004887214 uncertain significance not specified 2024-01-02 criteria provided, single submitter clinical testing The c.67C>T (p.R23W) alteration is located in exon 2 (coding exon 2) of the ALDH4A1 gene. This alteration results from a C to T substitution at nucleotide position 67, causing the arginine (R) at amino acid position 23 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004770263 SCV005380174 uncertain significance not provided 2024-02-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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