ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13354C>A (p.Leu4452Ile)

gnomAD frequency: 0.00001  dbSNP: rs1259070282
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784105 SCV002025610 uncertain significance Kleefstra syndrome 2 2020-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034613 SCV002255639 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KMT2C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 4452 of the KMT2C protein (p.Leu4452Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine.

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