ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)

gnomAD frequency: 0.00352  dbSNP: rs34084984
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239155 SCV000296902 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000239155 SCV000337834 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000671674 SCV000796671 likely benign Niemann-Pick disease, type C1 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000671674 SCV001100526 likely benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000239155 SCV002500321 likely benign not specified 2022-03-11 criteria provided, single submitter clinical testing Variant summary: NPC1 c.2882A>G (p.Asn961Ser) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00085 in 251206 control chromosomes, predominantly at a frequency of 0.012 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 4 fold of the estimated maximal expected allele frequency for a pathogenic variant in NPC1 causing Niemann-Pick Disease Type C phenotype (0.0027), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as VUS (n=1), benign (n=1) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign.
Natera, Inc. RCV000671674 SCV002095179 benign Niemann-Pick disease, type C1 2019-10-31 no assertion criteria provided clinical testing

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