ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.3586_3597del (p.Phe1196_Thr1199del) (rs1569351341)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698600 SCV000827273 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2018-03-01 criteria provided, single submitter clinical testing This variant, c.3652_3663del, results in the deletion of 4 amino acids of the SMC1A protein (p.Phe1218_Thr1221del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of Cornelia de Lange syndrome (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.

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