ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.587T>C (p.Ile196Thr)

dbSNP: rs797045070
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191131 SCV000245540 likely pathogenic Cornelia de Lange syndrome 3 2014-08-30 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in an 18-year-old male with autism, intellectual disability, hearing loss, dysmorphisms, hyperextensibility, short stature, mild scoliosis, platyspondyly, arachnodactyly, narrow hands.
GeneDx RCV004721289 SCV005327247 pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 30158690, 26633545)

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