ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.4399G>A (p.Val1467Ile) (rs376463379)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523709 SCV000619436 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing The V1467I variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V1467I variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000392428 SCV000461491 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300524 SCV000461492 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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