ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)

gnomAD frequency: 0.00113  dbSNP: rs116448158
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488165 SCV000575230 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000488165 SCV000702408 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139697 SCV001299878 uncertain significance Achromatopsia 2 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 RCV000488165 SCV001657888 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000488165 SCV001820290 uncertain significance not provided 2021-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in apparent homozygous state in patients with CNGA3-related retinal dystrophies in published literature (Sun et al., 2020); Observed as a single heterozygous variant in individuals with retinal dystrophies including achromatopsia in published literature, however, a second CNGA3 variant was not identified in these individuals and some had additional variants in other genes that may have also contributed to the phenotype (Thiadens et al., 2010; Langlo et al., 2016; Haer-Wigman et al., 2017); This variant is associated with the following publications: (PMID: 32913385, 30078014, 31456290, 27479814, 26355662, 20079539, 28224992)
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002969 SCV001161017 likely pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research

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