ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg)

dbSNP: rs74055693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002049591 SCV002113725 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2023-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 1352921). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 98 of the KIAA0586 protein (p.Met98Arg).

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