ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.1969G>T (p.Glu657Ter) (rs1569356968)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000757943 SCV000882827 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2019-02-15 no assertion criteria provided clinical testing The following variant was seen in heterozygous status: NM_006306.3:c.2035G>T/p.Glu679Ter in exon-12 of the SMC1A gene and has not been reported in the 1000 Genomes, ExAC and gnomAD databases. The in silico prediction of this variant is disease causing by MutationTaster2. Furthermore, nonsense mutations in this gene have been previously associated with Cornelia de Lange type 2 disease. The proband, born of a non-consanguineous marriage presented with mild intellectual disability and uncontrolled epilepsy. Molecular genetic studies revealed the proband to be heterozygous for the above mentioned variant. The variant was not observed in either of the phenotypical "normal" parents, suggesting the mutation to be de novo in origin.

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