ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6223A>C (p.Lys2075Gln)

gnomAD frequency: 0.00001  dbSNP: rs1449262096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769362 SCV002001216 uncertain significance not provided 2020-12-21 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 RCV001868605 SCV002145962 likely benign Kabuki syndrome 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040274 SCV004896615 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.6223A>C (p.K2075Q) alteration is located in exon 30 (coding exon 30) of the KMT2D gene. This alteration results from a A to C substitution at nucleotide position 6223, causing the lysine (K) at amino acid position 2075 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004758827 SCV005362755 uncertain significance KMT2D-related disorder 2024-05-31 no assertion criteria provided clinical testing The KMT2D c.6223A>C variant is predicted to result in the amino acid substitution p.Lys2075Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino 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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