ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile) (rs138258566)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517105 SCV000615594 uncertain significance not specified 2017-03-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734247 SCV000862371 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing
Invitae RCV001063605 SCV001228459 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 6141 of the SYNE1 protein (p.Val6141Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs138258566, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 448567). 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 C25"). 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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