ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.4759G>C (p.Gly1587Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002667047 SCV002979934 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KIDINS220-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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs750646311, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1587 of the KIDINS220 protein (p.Gly1587Arg).
PreventionGenetics, part of Exact Sciences RCV004744411 SCV005360942 uncertain significance KIDINS220-related disorder 2023-12-12 no assertion criteria provided clinical testing The KIDINS220 c.4759G>C variant is predicted to result in the amino acid substitution p.Gly1587Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) 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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