ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp)

dbSNP: rs2134129845
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV001638191 SCV001847722 likely pathogenic Hypotonia, ataxia, and delayed development syndrome criteria provided, single submitter clinical testing
3billion RCV001638191 SCV002012026 likely pathogenic Hypotonia, ataxia, and delayed development syndrome 2021-10-02 criteria provided, single submitter clinical testing The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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