ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4903C>T (p.Leu1635Phe)

gnomAD frequency: 0.00002  dbSNP: rs373445112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044120 SCV001207897 benign Kabuki syndrome 2022-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898049 SCV004709832 uncertain significance KMT2D-related condition 2023-12-06 criteria provided, single submitter clinical testing The KMT2D c.4903C>T variant is predicted to result in the amino acid substitution p.Leu1635Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) 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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