ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) (rs151247098)

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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 RCV000724834 SCV000331979 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000332066 SCV000572980 uncertain significance not specified 2017-02-09 criteria provided, single submitter clinical testing The H7261P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The H7261P variant is observed in 17/10406 (0.16%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). 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. However, this substitution occurs at a position that is not conserved, and 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 RCV001079056 SCV001016408 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 RCV000724834 SCV001145925 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing

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