ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)

gnomAD frequency: 0.00131  dbSNP: rs201407276
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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 RCV000309330 SCV000398375 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 RCV001000923 SCV001158010 uncertain significance Retinitis pigmentosa 45 2018-12-13 criteria provided, single submitter clinical testing The CNGB1 c.232G>A; p.Ala78Thr variant (rs201407276), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is described in the ClinVar database (Variation ID: 320112) and in the African population with an allele frequency of 0.4% (105/24188 alleles) in the Genome Aggregation Database. The amino acid at this position is weakly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Considering available information, the clinical significance of this variant cannot be determined with certainty.
Invitae RCV001430950 SCV001633699 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001430950 SCV002526302 uncertain significance not provided 2022-06-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002522881 SCV003646723 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.232G>A (p.A78T) alteration is located in exon 4 (coding exon 3) of the CNGB1 gene. This alteration results from a G to A substitution at nucleotide position 232, causing the alanine (A) at amino acid position 78 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003910216 SCV004720406 likely benign CNGB1-related disorder 2023-02-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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