ClinVar Miner

Submissions for variant NM_015202.5(KATNIP):c.4850G>A (p.Arg1617His)

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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 RCV002620662 SCV003510425 uncertain significance not provided 2023-01-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with KIAA0556-related conditions. This variant is present in population databases (rs762795797, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1617 of the KIAA0556 protein (p.Arg1617His).
Baylor Genetics RCV003147830 SCV003835103 uncertain significance Joubert syndrome 26 2021-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004725554 SCV005338568 uncertain significance KATNIP-related disorder 2024-04-15 no assertion criteria provided clinical testing The KATNIP c.4850G>A variant is predicted to result in the amino acid substitution p.Arg1617His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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