ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.592G>A (p.Val198Ile)

gnomAD frequency: 0.00001  dbSNP: rs761554206
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198099 SCV001368900 uncertain significance Kleefstra syndrome 1 2019-09-06 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198099 SCV002365152 benign Kleefstra syndrome 1 2022-11-19 criteria provided, single submitter clinical testing
GeneDx RCV004761968 SCV005373022 uncertain significance not provided 2023-07-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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