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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