ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val)

gnomAD frequency: 0.00001  dbSNP: rs1373790479
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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 RCV000578167 SCV003461839 uncertain significance Kabuki syndrome 2 2023-04-12 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 84 of the KDM6A protein (p.Ile84Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KDM6A-related conditions. ClinVar contains an entry for this variant (Variation ID: 488374). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KDM6A protein function. 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.
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School RCV000578167 SCV000680058 uncertain significance Kabuki syndrome 2 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001034584 SCV001197964 likely pathogenic CHARGE syndrome no assertion criteria provided research

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