ClinVar Miner

Submissions for variant NM_001905.4(CTPS1):c.1471T>G (p.Cys491Gly)

dbSNP: rs2148420580
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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 RCV002031998 SCV002313295 uncertain significance Severe combined immunodeficiency due to CTPS1 deficiency 2022-01-26 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CTPS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 491 of the CTPS1 protein (p.Cys491Gly).
Ambry Genetics RCV004044863 SCV003889709 uncertain significance not specified 2023-02-28 criteria provided, single submitter clinical testing The c.1471T>G (p.C491G) alteration is located in exon 16 (coding exon 15) of the CTPS1 gene. This alteration results from a T to G substitution at nucleotide position 1471, causing the cysteine (C) at amino acid position 491 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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