ClinVar Miner

Submissions for variant NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn)

dbSNP: rs137853112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383036 SCV001582045 pathogenic not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 150 of the KLHL7 protein (p.Ser150Asn). 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: 19520207, 22084217). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1008). 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 are conflicting or provide insufficient evidence to determine the effect of this variant on KLHL7 function (PMID: 21828050). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001383036 SCV004169845 likely pathogenic not provided 2023-05-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; One published functional study was unable to demonstrate any obvious effects on KLHL7 function, and additional studies are needed to further investigate this variant (Kigoshi et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27392078, 22084217, 31429209, 30997404, 19520207, 21828050)
OMIM RCV000001063 SCV000021213 pathogenic Retinitis pigmentosa 42 2009-06-01 no assertion criteria provided literature only

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