ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.-47A>G

gnomAD frequency: 0.00462  dbSNP: rs186471030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000268503 SCV000398380 uncertain significance Retinitis pigmentosa 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, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755935 SCV000883614 likely benign not provided 2018-05-06 criteria provided, single submitter clinical testing The CNGB1 c.-47A>G variant (rs186471030), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 320116) and in the Genome Aggregation Database with an overall allele frequency of 0.4% (130/30960 alleles). This is an intronic variant that occurs before the translational start, the nucleotide at this position is not conserved, only humans have an A nucleotide at this position, and computational analysis (Alamut v.2.11) predict this variant does not alter splicing. Considering available information, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000755935 SCV004139883 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CNGB1: BS2

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