ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe) (rs199701902)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517050 SCV000615557 uncertain significance not specified 2016-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000766931 SCV000619341 uncertain significance not provided 2017-07-20 criteria provided, single submitter clinical testing The C4504F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The C4504F variant is observed in 29/8,654 (0.34%) alleles from individuals of East Asian 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. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. 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).
Illumina Clinical Services Laboratory,Illumina RCV000347777 SCV000461195 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407531 SCV000461196 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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