ClinVar Miner

Submissions for variant NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)

gnomAD frequency: 0.00008  dbSNP: rs201553871
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490531 SCV000267260 uncertain significance Retinitis pigmentosa 49 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services, Illumina RCV001119868 SCV001278319 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001489289 SCV001693828 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
OMIM RCV000191921 SCV000246144 pathogenic Retinitis pigmentosa 45 2013-06-14 no assertion criteria provided literature only

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