ClinVar Miner

Submissions for variant NC_000011.10:g.6390221_6390884del

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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 RCV003782629 SCV004604397 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2023-12-21 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 1 (c.-378_286del) of the SMPD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMPD1 are known to be pathogenic (PMID: 12369017, 15221801). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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