ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)

dbSNP: rs387906702
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, University of Leuven RCV000022820 SCV000268067 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2015-01-01 criteria provided, single submitter literature only
GeneDx RCV000441375 SCV000520965 pathogenic not provided 2020-12-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20635401, 24756084, 27159028, 24124034)
Ambry Genetics RCV000623393 SCV000743068 likely pathogenic Inborn genetic diseases 2017-10-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000441375 SCV001248233 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
3billion RCV000022820 SCV002521276 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.86; 3Cnet: 0.52). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000029929). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 20635401, 24124034, 24756084). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000022820 SCV000044109 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2010-08-01 no assertion criteria provided literature only

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