ClinVar Miner

Submissions for variant NC_000006.11:g.(?_74363496)_(74363609_?)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 RCV003116602 SCV003792811 pathogenic Salla disease 2022-04-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the SLC17A5 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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). A similar copy number variant has been observed in individual(s) with sialic acid storage disorder (PMID: 30243016). For these reasons, this variant has been classified as Pathogenic.

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