ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)

gnomAD frequency: 0.00001  dbSNP: rs1472109408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674347 SCV000799670 likely pathogenic Salla disease 2018-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674347 SCV002238781 pathogenic Salla disease 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr223Leufs*27) 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 (no rsID available, gnomAD 0.006%). 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: 558121). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000674347 SCV004201220 likely pathogenic Salla disease 2023-08-17 criteria provided, single submitter clinical testing

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