ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu)

gnomAD frequency: 0.00009  dbSNP: rs587778453
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731418 SCV000859234 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001484196 SCV001688608 likely benign Kabuki syndrome 2024-12-26 criteria provided, single submitter clinical testing
GeneDx RCV000731418 SCV001874803 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
ITMI RCV000121374 SCV000085556 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004530006 SCV004709367 uncertain significance KMT2D-related disorder 2024-03-01 no assertion criteria provided clinical testing The KMT2D c.2222C>T variant is predicted to result in the amino acid substitution p.Pro741Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of African descent in gnomAD. 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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