ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr) (rs138509817)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730469 SCV000590025 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing The M5563T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The M5563T variant is observed in 28/8640 (0.3%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Methionine are tolerated across species. However, 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. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000498329 SCV000605329 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000498329 SCV000615579 uncertain significance not specified 2017-07-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730469 SCV000858205 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV001086544 SCV001020402 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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