ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.3535A>G (p.Ile1179Val)

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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 RCV003720289 SCV004515025 uncertain significance not provided 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1179 of the KIDINS220 protein (p.Ile1179Val). This variant is present in population databases (rs755042243, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with KIDINS220-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV004741679 SCV005348951 likely benign KIDINS220-related disorder 2023-12-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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