ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.4310A>T (p.Gln1437Leu)

gnomAD frequency: 0.00001  dbSNP: rs1472396434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002260753 SCV002540351 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003101440 SCV003479372 uncertain significance Kabuki syndrome 2 2023-04-26 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt KDM6A protein function. ClinVar contains an entry for this variant (Variation ID: 1693342). This variant has not been reported in the literature in individuals affected with KDM6A-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1385 of the KDM6A protein (p.Gln1385Leu).
Ambry Genetics RCV004982955 SCV005612968 uncertain significance Inborn genetic diseases 2024-09-26 criteria provided, single submitter clinical testing The c.4154A>T (p.Q1385L) alteration is located in exon 28 (coding exon 28) of the KDM6A gene. This alteration results from a A to T substitution at nucleotide position 4154, causing the glutamine (Q) at amino acid position 1385 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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