ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)

dbSNP: rs2075652085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001252976 SCV001428460 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-04-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255325 SCV001431711 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.2545C>T, p.(Gln849*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.
3billion RCV001252976 SCV002011994 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). 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). The variant has been reported as pathogenic (ClinVar ID: VCV000975860.2).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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