ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)

dbSNP: rs1182983579
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043815 SCV001207581 pathogenic not provided 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 145 of the KLHL7 protein (p.Asn145Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 28041643, 31856884; Invitae). ClinVar contains an entry for this variant (Variation ID: 438051). 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. This variant disrupts the p.Asn145 amino acid residue in KLHL7. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 31856884). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074657 SCV001240249 likely pathogenic Retinal dystrophy 2019-02-21 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376512 SCV001573689 uncertain significance Retinitis pigmentosa 42 2021-04-08 criteria provided, single submitter research The KLHL7 c.433A>G variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PM1, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
GeneDx RCV001043815 SCV003803414 likely pathogenic not provided 2022-08-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32581362, 31856884, 28041643, 31049658, 32531858)
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504764 SCV000598878 likely pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research

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