ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys)

dbSNP: rs2152596521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001775260 SCV002011988 likely pathogenic Intellectual disability, autosomal dominant 13 2021-10-02 criteria provided, single submitter clinical testing The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.728, PP3). Patient is considered compatible with Mental retardation, autosomal dominant 13 (PP4_P).Therefore, this variant is classified as likey pathogenic according to the recommendation of ACMG/AMP guideline.

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