ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) (rs192628905)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173736 SCV000224884 benign not specified 2014-08-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371837 SCV000398365 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755238 SCV000603094 uncertain significance not provided 2017-05-29 criteria provided, single submitter clinical testing The CNGB1 c.634A>T;p.Thr212Ser variant has not been described in the medical literature, but is listed in the ClinVar database (Variation ID: 193628). The variant is listed in the dbSNP variant database (rs192628905) with an allele frequency of 1.2598 percent (48/3762 alleles) in the African American population in the Exome Variant Server and 1.527 percent (293/19194 alleles) in the African population in the Genome Aggregation Database. The amino acid at this position is not conserved and several other mammals have a serine at this position. Additionally, computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is tolerated. However, this information is not sufficient to consider the variant benign. Therefore, the variant cannot be classified as benign or pathogenic at this time. If this variant is later determined to be pathogenic, this variant would be causative for autosomal recessive retinitis pigmentosa (OMIM#600724).

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