ClinVar Miner

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

dbSNP: rs137853113
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Total submissions: 9
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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
Invitae 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

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