ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)

gnomAD frequency: 0.00012  dbSNP: rs121908487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000006147 SCV001281515 uncertain significance Cystinuria 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002512820 SCV003486479 uncertain significance not provided 2022-05-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 232 of the SLC7A9 protein (p.Tyr232Cys). This variant is present in population databases (rs121908487, gnomAD 0.03%). This missense change has been observed in individual(s) with cystinuria (PMID: 15635077, 16225397, 33377691). ClinVar contains an entry for this variant (Variation ID: 5791). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
OMIM RCV000006147 SCV000026329 pathogenic Cystinuria 2005-01-01 no assertion criteria provided literature only

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