ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)

dbSNP: rs727505393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002254910 SCV002526262 likely pathogenic not provided 2022-06-08 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26100331, 25609763, 25512093)
Mendelics RCV000157064 SCV000206775 pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13 2014-11-24 no assertion criteria provided clinical testing

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