ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15589G>A (p.Ala5197Thr)

dbSNP: rs1555185696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659826 SCV000781689 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002530557 SCV002976130 uncertain significance Kabuki syndrome 2022-03-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KMT2D-related conditions. 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 KMT2D protein function. ClinVar contains an entry for this variant (Variation ID: 547504). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 5197 of the KMT2D protein (p.Ala5197Thr).

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