ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)

gnomAD frequency: 0.00062  dbSNP: rs138184115
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595377 SCV000707128 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Counsyl RCV000671781 SCV000796800 uncertain significance Niemann-Pick disease, type C1 2018-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671781 SCV000896687 uncertain significance Niemann-Pick disease, type C1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671781 SCV001018709 likely benign Niemann-Pick disease, type C1 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000595377 SCV001986193 uncertain significance not provided 2024-06-02 criteria provided, single submitter clinical testing Identified in a cohort of NPC patients, however the number of alleles with the variant and the zygosity of the affected individual(s) was not provided (PMID: 12955717); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27238017, 12955717)
Ambry Genetics RCV002532557 SCV003542660 likely benign Inborn genetic diseases 2022-01-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000595377 SCV005408594 uncertain significance not provided 2024-04-08 criteria provided, single submitter clinical testing BS1
Natera, Inc. RCV000671781 SCV001455872 likely benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing

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