ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)

dbSNP: rs772039085
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409486 SCV000485769 likely pathogenic Salla disease 2016-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409486 SCV004365374 pathogenic Salla disease 2023-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr117Leufs*78) 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 not present in population databases (gnomAD no frequency). 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: 370442). For these reasons, this variant has been classified as Pathogenic.

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