ClinVar Miner

Submissions for variant NM_001281463.1(SMC1A):c.2303G>A (p.Arg768Gln) (rs797045993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194474 SCV000248984 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2014-11-26 criteria provided, single submitter clinical testing
Invitae RCV000194474 SCV000637992 pathogenic Congenital muscular hypertrophy-cerebral syndrome 2017-06-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 790 of the SMC1A protein (p.Arg790Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (rs797045993, ExAC no frequency). This variant has been reported as de novo in two individuals affected with Cornelia de Lange syndrome (PMID: 17273969, Invitae). ClinVar contains an entry for this variant (Variation ID: 212267). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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