ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala) (rs375079396)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000277505 SCV000337966 uncertain significance not provided 2015-12-28 criteria provided, single submitter clinical testing
Invitae RCV000647637 SCV000769435 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-03-13 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 2856 of the SYNE1 protein (p.Val2856Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs375079396, ExAC 0.06%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 285095). 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: "Benign"; Align-GVGD: "Class C55"). 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.

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