ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.818A>G (p.Gln273Arg)

dbSNP: rs2135785234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890466 SCV002150337 uncertain significance Kleefstra syndrome 1 2021-10-27 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, a(n) neutral and polar amino acid, with arginine, a(n) basic and polar amino acid, at codon 273 of the EHMT1 protein (p.Gln273Arg).

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