ClinVar Miner

Submissions for variant NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)

gnomAD frequency: 0.00443  dbSNP: rs187783545
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127204 SCV000170758 benign not specified 2012-05-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000127204 SCV000335695 benign not specified 2015-09-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397424 SCV000461760 benign Lafora disease 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.
Invitae RCV000397424 SCV000562124 benign Lafora disease 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312578 SCV000846003 benign Inborn genetic diseases 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV000675660 SCV004163136 benign not provided 2023-05-01 criteria provided, single submitter clinical testing NHLRC1: BP4, BP7, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000675660 SCV000801361 benign not provided 2017-06-15 no assertion criteria provided clinical testing

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