ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.612C>T (p.Thr204=)

gnomAD frequency: 0.00122  dbSNP: rs151084683
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178742 SCV000230885 benign not specified 2017-09-26 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000178742 SCV000303387 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000533157 SCV000407887 benign Niemann-Pick disease, type C1 2018-01-13 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.
Invitae RCV000533157 SCV000650851 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001529779 SCV001889928 benign not provided 2019-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354462 SCV002655645 likely benign Inborn genetic diseases 2022-04-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics RCV000533157 SCV002799882 likely benign Niemann-Pick disease, type C1 2021-09-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000533157 SCV001455883 benign Niemann-Pick disease, type C1 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529779 SCV001743844 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529779 SCV001809370 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529779 SCV001964031 likely benign not provided no assertion criteria provided clinical testing

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