ClinVar Miner

Submissions for variant NM_001012759.3(CTU2):c.1327C>T (p.Arg443Cys)

gnomAD frequency: 0.00034  dbSNP: rs374920828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923890 SCV003275925 uncertain significance not provided 2022-05-25 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 443 of the CTU2 protein (p.Arg443Cys). This variant is present in population databases (rs374920828, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with CTU2-related conditions.
Ambry Genetics RCV004614278 SCV005104750 uncertain significance not specified 2024-05-06 criteria provided, single submitter clinical testing The c.1327C>T (p.R443C) alteration is located in exon 12 (coding exon 12) of the CTU2 gene. This alteration results from a C to T substitution at nucleotide position 1327, causing the arginine (R) at amino acid position 443 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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