ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2661G>A (p.Pro887=)

gnomAD frequency: 0.00711  dbSNP: rs9949660
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000542052 SCV000407859 benign Niemann-Pick disease, type C1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000542052 SCV000650840 benign Niemann-Pick disease, type C1 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000542052 SCV001653401 likely benign Niemann-Pick disease, type C1 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001594956 SCV001828248 benign not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16126423)
Ambry Genetics RCV002429284 SCV002744121 likely benign Inborn genetic diseases 2022-02-17 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.
Breakthrough Genomics, Breakthrough Genomics RCV001594956 SCV005215163 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000542052 SCV001453842 benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing

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