ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln)

gnomAD frequency: 0.00204  dbSNP: rs77080672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224097 SCV000280879 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000390564 SCV000332338 benign not specified 2015-06-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086756 SCV001118341 likely benign Niemann-Pick disease, type C1 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000224097 SCV001773173 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947735 SCV004764542 benign NPC1-related disorder 2023-01-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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