ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)

dbSNP: rs1554286384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054300 SCV001218608 likely pathogenic not provided 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 141 of the KLHL7 protein (p.Val141Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant KLHL7-related conditions (PMID: 27160483, 34906470; Invitae). ClinVar contains an entry for this variant (Variation ID: 438050). 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 tolerated. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000505171 SCV001950291 uncertain significance Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Val141Ala variant in KLHL7 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PM2, PP2. Based on this evidence we have classified this variant as a Variant of Uncertain Significance. If you have any questions about the classification please reach out to the Pierce Lab.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505171 SCV000598877 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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