ClinVar Miner

Submissions for variant NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) (rs587784408)

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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 RCV000147556 SCV000195003 likely pathogenic Congenital muscular hypertrophy-cerebral syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000147556 SCV000637990 uncertain significance Congenital muscular hypertrophy-cerebral syndrome 2017-02-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 693 of the SMC1A protein (p.Arg693Gln). 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 (rs587784408, ExAC no frequency). This variant has been reported de novo (not inherited from either parent) in an individual affected with Cornelia de Lange syndrome (PMID: 24124034). ClinVar contains an entry for this variant (Variation ID: 159946). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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