ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala)

gnomAD frequency: 0.00057  dbSNP: rs201393573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000331123 SCV000335660 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158999 SCV001320680 uncertain significance Occult macular dystrophy 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.
GeneDx RCV000331123 SCV002028610 uncertain significance not provided 2021-05-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with retinal disease, however additional information was not provided (Davidson et al., 2013); This variant is associated with the following publications: (PMID: 23281133)

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