ClinVar Miner

Submissions for variant NC_000006.12:g.(?_73644397)_(73644613_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032743 SCV001196050 pathogenic Salla disease 2019-05-10 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the SLC17A5 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SLC17A5-related conditions. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). For these reasons, this variant has been classified as Pathogenic.

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