ClinVar Miner

Submissions for variant NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)

gnomAD frequency: 0.00002  dbSNP: rs777391124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302328 SCV001491532 uncertain significance Congenital glucose-galactose malabsorption 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 115 of the SLC5A1 protein (p.Leu115Arg). This variant is present in population databases (rs777391124, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SLC5A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005454). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001302328 SCV002783818 uncertain significance Congenital glucose-galactose malabsorption 2022-01-28 criteria provided, single submitter clinical testing

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