ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2T>G (p.Met1Arg)

dbSNP: rs1185800023
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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 RCV001320717 SCV001511513 uncertain significance Kleefstra syndrome 1 2023-06-19 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. ClinVar contains an entry for this variant (Variation ID: 1021030). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change affects the initiator methionine of the EHMT1 mRNA. The next in-frame methionine is located at codon 32.

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