ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)

dbSNP: rs781817923
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415185 SCV000492619 uncertain significance Pectus excavatum; Cognitive impairment; Abnormal corpus callosum morphology; Dysarthria; Polyneuropathy; Cerebellar atrophy; Pes cavus; Spastic paraplegia 2015-06-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488856 SCV002792371 uncertain significance Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2022-02-03 criteria provided, single submitter clinical testing
GeneDx RCV004760487 SCV005369143 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 29604063)

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