ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.2990_3016delinsTGCAG (p.Arg997fs) (rs1556886127)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639413 SCV000760986 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2017-12-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SMC1A gene (p.Arg1019Leufs*186). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt 185 amino acids and delete the last 30 amino acids of the SMC1A protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMC1A-related disease. A different variant present in the disrupted region (p.Tyr1085Cys) has been determined to be likely pathogenic (PMID: 17221863, Invitae). This suggests that the tyrosine residue is critical for SMC1A protein function and that other variants disrupting this position may also be pathogenic. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV000639413 SCV001749729 not provided Congenital muscular hypertrophy-cerebral syndrome no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 12-27-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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