ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu)

gnomAD frequency: 0.00003  dbSNP: rs765654409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638427 SCV000759942 benign Kabuki syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763856 SCV000894787 uncertain significance Kabuki syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533338 SCV004113601 uncertain significance KMT2D-related disorder 2023-06-07 criteria provided, single submitter clinical testing The KMT2D c.6518C>T variant is predicted to result in the amino acid substitution p.Ser2173Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49435035-G-A). Although we suspect that this variant may be benign, 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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