ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu) (rs141996707)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000713675 SCV000344789 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713675 SCV000844302 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
Invitae RCV000803436 SCV000943307 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1731 of the SYNE1 protein (p.Phe1731Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs141996707, 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: 290268). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.

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