ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.411T>G (p.Cys137Trp)

dbSNP: rs12150890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002552024 SCV002932421 uncertain significance not provided 2022-01-03 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 829904). This variant has not been reported in the literature in individuals affected with SLC7A9-related conditions. This variant is present in population databases (rs12150890, gnomAD 0.004%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 137 of the SLC7A9 protein (p.Cys137Trp).
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029851 SCV001192637 likely pathogenic Cystinuria 2019-10-17 no assertion criteria provided clinical testing

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