ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1549G>A (p.Val517Ile)

dbSNP: rs201791992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732955 SCV000860957 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Invitae RCV001392755 SCV001594404 likely benign Niemann-Pick disease, type C1 2024-01-28 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003396308 SCV004118994 uncertain significance NPC1-related condition 2022-12-07 criteria provided, single submitter clinical testing The NPC1 c.1549G>A variant is predicted to result in the amino acid substitution p.Val517Ile. This variant has been reported as benign in an exome sequencing study (Wassif et al. 2016. PubMed ID: 25764212). This variant is reported in 0.071% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-21134726-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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