ClinVar Miner

Submissions for variant NM_015295.2(SMCHD1):c.4255A>G (p.Thr1419Ala) (rs191487554)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639703 SCV000761284 uncertain significance Facioscapulohumeral muscular dystrophy 2 2017-10-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1419 of the SMCHD1 protein (p.Thr1419Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs191487554, ExAC 0.07%). This variant has not been reported in the literature in individuals with SMCHD1-related disease. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729724 SCV000857410 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing

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