Submissions for variant NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val)

dbSNP: rs137853113

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079374	SCV000111244	pathogenic	not provided	2013-08-16	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001073803	SCV001239365	pathogenic	Retinal dystrophy	2018-04-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000079374	SCV001397681	pathogenic	not provided	2023-12-13	criteria provided, single submitter	clinical testing	This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 153 of the KLHL7 protein (p.Ala153Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 19520207). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1009). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects KLHL7 function (PMID: 21828050). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center	RCV000001064	SCV001428729	pathogenic	Retinitis pigmentosa 42	2020-03-04	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000079374	SCV001762021	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV000001064	SCV002761630	pathogenic	Retinitis pigmentosa 42	2021-04-29	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV001073803	SCV004704743	pathogenic	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
OMIM	RCV000001064	SCV000021214	pathogenic	Retinitis pigmentosa 42	2011-09-23	no assertion criteria provided	literature only
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003071	SCV001161128	likely pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research