ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) (rs115534729)

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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 RCV000309842 SCV000332007 likely benign not specified 2015-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000657157 SCV000618868 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SYNE1 gene. The S6692L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. This variant is observed in 98/24026 (0.41%) alleles from individuals of Africanbackground in large population cohors (Lek et al., 2016). The S6692L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000657157 SCV000844249 likely benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Invitae RCV001085639 SCV001014767 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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