ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) (rs138407813)

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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 RCV000725092 SCV000333947 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000725092 SCV000621142 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing The D8223G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D8223G variant is observed in 57/24,030 (0.24%) alleles from individuals of African background (Lek et al., 2016). This 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. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with SYNE1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV001088187 SCV000649143 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725092 SCV001145949 likely benign not provided 2019-06-13 criteria provided, single submitter clinical testing

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