ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del)

dbSNP: rs758687942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000492895 SCV000344636 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000492895 SCV000581824 pathogenic not provided 2023-09-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15465421, 26666848, 11349231, 19744920, 31639011)
Counsyl RCV000669390 SCV000794138 uncertain significance Niemann-Pick disease, type C1 2017-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669390 SCV001410264 pathogenic Niemann-Pick disease, type C1 2023-08-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs758687942, gnomAD 0.01%). This variant, c.688_693del, results in the deletion of 2 amino acid(s) of the NPC1 protein (p.Ser230_Val231del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individual(s) with NPC1-related conditions (PMID: 11349231, 19744920, 26666848). For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 290134).

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