ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1937G>A (p.Arg646His)

gnomAD frequency: 0.00034  dbSNP: rs112387560
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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) RCV000729578 SCV000857251 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001416117 SCV001618289 likely benign Niemann-Pick disease, type C1 2024-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001416117 SCV003816037 uncertain significance Niemann-Pick disease, type C1 2022-03-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407591 SCV004107628 uncertain significance NPC1-related condition 2024-01-12 criteria provided, single submitter clinical testing The NPC1 c.1937G>A variant is predicted to result in the amino acid substitution p.Arg646His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.081% of alleles in individuals of African descent in gnomAD. 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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