Submissions for variant NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His) (rs147615757)

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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	RCV000597553	SCV000707046	uncertain significance	not provided	2017-03-20	criteria provided, single submitter	clinical testing
Invitae	RCV000647661	SCV000769459	uncertain significance	Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2017-11-13	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid with histidine at codon 5965 of the SYNE1 protein (p.Asp5965His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE1-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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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.

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