ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) (rs746864807)

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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 RCV000174820 SCV000226190 uncertain significance not provided 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000705349 SCV000834341 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-11-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 8548 of the SYNE1 protein (p.Met8548Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs746864807, ExAC 0.02%). This variant has been observed in an individual affected with left ventricular noncompaction (LVNC) (PMID: 28798025). This variant is also known as M8596V in the literature. ClinVar contains an entry for this variant (Variation ID: 194450). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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