ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup)

dbSNP: rs769370817
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892705 SCV002148950 uncertain significance Kabuki syndrome 2 2024-03-14 criteria provided, single submitter clinical testing This variant, c.28_39dup, results in the insertion of 4 amino acid(s) of the KDM6A protein (p.Thr10_Ala13dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1383579). 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 RCV003416536 SCV004106345 uncertain significance KDM6A-related disorder 2022-10-25 criteria provided, single submitter clinical testing The KDM6A c.28_39dup12 variant is predicted to result in an in-frame duplication (p.Thr10 Ala13dup). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0068% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-44732820-T-TCGCTACCGCCGC). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004041298 SCV004892079 uncertain significance Inborn genetic diseases 2023-12-20 criteria provided, single submitter clinical testing The c.28_39dupACCGCCGCCGCT (p.T10_A13dup) alteration is located in exon 1 (coding exon 1) of the KDM6A gene. The alteration consists of an in-frame duplication of 12 nucleotides from position 28 to 39, resulting in the duplication of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004728895 SCV005332309 uncertain significance not provided 2023-05-31 criteria provided, single submitter clinical testing In-frame duplication of 4 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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