ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)

gnomAD frequency: 0.00806  dbSNP: rs147593839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367163 SCV000398353 uncertain significance Retinitis pigmentosa 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001510510 SCV001717564 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001510510 SCV004010492 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CNGB1: BP4, BS2
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225688 SCV000282623 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729470 SCV001979180 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001510510 SCV001980359 likely benign not provided no assertion criteria provided clinical testing

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