ClinVar Miner

Submissions for variant NC_000006.11:g.(?_74320103)_(74320290_?)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 RCV003116603 SCV003792812 pathogenic Salla disease 2022-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with sialic acid storage disease (PMID: 15805149). This variant is a gross deletion of the genomic region encompassing exon(s) 9 of the SLC17A5 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001).

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