ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)

dbSNP: rs1057517119
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409207 SCV000486776 likely pathogenic Salla disease 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409207 SCV001589973 pathogenic Salla disease 2022-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371242). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly374Aspfs*7) 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).
Genome-Nilou Lab RCV000409207 SCV002027570 likely pathogenic Salla disease 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409207 SCV005056767 likely pathogenic Salla disease 2023-12-12 criteria provided, single submitter clinical testing

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