ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)

dbSNP: rs1769021763
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234201 SCV001406834 pathogenic Salla disease 2019-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). This variant has not been reported in the literature in individuals with SLC17A5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln207*) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product.
DASA RCV002298911 SCV002588759 pathogenic Sialic acid storage disease, severe infantile type 2022-11-03 criteria provided, single submitter clinical testing The c.619C>T;p.(Gln207*) variant creates a premature translational stop signal in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product - PVS1. ClinVar contains an entry for this variant (ClinVar ID:960642) - PS4_supporting. This variant is not present in population databases (rs1769021763, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.
Baylor Genetics RCV001234201 SCV004201216 likely pathogenic Salla disease 2023-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004727019 SCV005336484 pathogenic SLC17A5-related disorder 2024-08-13 no assertion criteria provided clinical testing The SLC17A5 c.619C>T variant is predicted to result in premature protein termination (p.Gln207*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. In ClinVar, this variant has been reported as likely pathogenic /pathogenic (https://preview.ncbi.nlm.nih.gov/clinvar/variation/960642/). Nonsense variants in SLC17A5 are expected to be pathogenic. This variant is interpreted as pathogenic.

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