ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu) (rs773315032)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693308 SCV000821171 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 6355 of the SYNE1 protein (p.Ile6355Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant is present in population databases (rs773315032, ExAC 0.003%). 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: "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.
Athena Diagnostics Inc RCV000993148 SCV001145916 uncertain significance not provided 2019-01-24 criteria provided, single submitter clinical testing

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