ClinVar Miner

Submissions for variant NC_000010.10:g.(?_73587761)_(73588844_?)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 RCV001962174 SCV002128528 pathogenic Sphingolipid activator protein 1 deficiency 2021-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PSAP protein in which other variant(s) (p.Thr217Ile) have been determined to be pathogenic (PMID: 2302219, 2320574; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with PSAP-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5-6 of the PSAP gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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