ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4273G>C (p.Asp1425His)

gnomAD frequency: 0.00009  dbSNP: rs201205913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398688 SCV000471123 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Dept Of Ophthalmology, Nagoya University RCV003888570 SCV004705871 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132697 SCV000172650 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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