ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met) (rs373040273)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710241 SCV000339895 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710241 SCV000615561 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV000695798 SCV000824319 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-12-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 4737 of the SYNE1 protein (p.Thr4737Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs373040273, ExAC 0.03%). This variant has not been reported in the literature in individuals with SYNE1-related disease. ClinVar contains an entry for this variant (Variation ID: 286456). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252122 SCV001427871 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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