Submissions for variant NM_133497.4(KCNV2):c.80G>A (p.Arg27His)

gnomAD frequency: 0.00044  dbSNP: rs145731729

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000132690	SCV000224682	uncertain significance	not provided	2014-06-10	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490298	SCV000267378	uncertain significance	Cone dystrophy with supernormal rod response	2016-03-18	criteria provided, single submitter	reference population
Mendelics	RCV000988139	SCV001137739	benign	Cone dystrophy 3	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000490298	SCV001330119	benign	Cone dystrophy with supernormal rod response	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000132690	SCV001717480	benign	not provided	2025-01-18	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004815203	SCV005071713	uncertain significance	Retinal dystrophy	2023-01-01	criteria provided, single submitter	clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132690	SCV000172643	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences	RCV003917427	SCV004736152	likely benign	KCNV2-related disorder	2019-04-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).