ClinVar Miner

Submissions for variant NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)

gnomAD frequency: 0.00002  dbSNP: rs767673239
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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 RCV001919944 SCV002162906 uncertain significance Congenital glucose-galactose malabsorption 2022-10-05 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1396323). This variant has not been reported in the literature in individuals affected with SLC5A1-related conditions. This variant is present in population databases (rs767673239, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 52 of the SLC5A1 protein (p.Arg52Cys).
Fulgent Genetics, Fulgent Genetics RCV001919944 SCV002775235 uncertain significance Congenital glucose-galactose malabsorption 2021-07-09 criteria provided, single submitter clinical testing

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