ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.998del (p.Leu333fs)

dbSNP: rs779494716
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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 RCV001972775 SCV002240379 pathogenic Salla disease 2023-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu333Cysfs*4) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). This variant is present in population databases (rs779494716, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1458010). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001972775 SCV004201231 likely pathogenic Salla disease 2024-02-16 criteria provided, single submitter clinical testing

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