ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.719dup (p.Asn240fs)

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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 RCV002871624 SCV003233013 pathogenic Kleefstra syndrome 1 2024-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn240Lysfs*4) in the EHMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EHMT1 are known to be pathogenic (PMID: 16826528, 19264732). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2026959). For these reasons, this variant has been classified as Pathogenic.

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