ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) (rs137853902)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000086949 SCV000706442 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000086949 SCV001207551 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 916 of the CNGB1 protein (p.Arg916His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs137853902, ExAC 0.09%). This variant has been observed in an individual affected with retinitis pigmentosa (PMID: 22025579). ClinVar contains an entry for this variant (Variation ID: 100568). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000787821 SCV001274894 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086949 SCV000119201 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787821 SCV000926834 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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