ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) (rs863225458)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University Hospitals Case Medical Center/Case Western Reserve University RCV000202429 SCV000245564 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2015-09-08 criteria provided, single submitter clinical testing Developmental delay and seizures, with either mild or absent classic CdLS facial features.
GeneDx RCV000394437 SCV000330284 pathogenic not provided 2016-04-08 criteria provided, single submitter clinical testing The c.2853_2856delTCAG pathogenic variant in the SMC1A gene has been reported previously as a heterozygous de novo pathogenic variant in a female child with intractable epilepsy, developmental delay, severe hypotonia, and microcephaly (Goldstein et al., 2015). The c.2853_2856delTCAG variant causes a frameshift starting with codon Serine 951, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Ser951ArgfsX12. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2853_2856delTCAG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2853_2856delTCAG as a pathogenic variant.
Baylor Genetics RCV000202429 SCV000747081 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-08 criteria provided, single submitter clinical testing
OMIM RCV001072124 SCV001237467 pathogenic Developmental and epileptic encephalopathy, 85, with or without midline brain defects 2015-10-01 no assertion criteria provided literature only

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