ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.3272C>T (p.Ala1091Val)

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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 RCV002751621 SCV003024109 uncertain significance not provided 2024-11-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1091 of the KIDINS220 protein (p.Ala1091Val). This variant is present in population databases (rs749977475, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KIDINS220-related conditions. ClinVar contains an entry for this variant (Variation ID: 1981705). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003395516 SCV004119840 uncertain significance KIDINS220-related disorder 2024-07-16 no assertion criteria provided clinical testing The KIDINS220 c.3272C>T variant is predicted to result in the amino acid substitution p.Ala1091Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of European (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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