ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12108+10_12108+32dup

dbSNP: rs1333520524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002246186 SCV002515884 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-05-20 criteria provided, single submitter clinical testing For the following reasons, we assess the SYNE2 sequence variant found to be "Likely benign": the mutation has not yet been described in the specialized literature or listed in the HGMD and ClinVar databases; a comparison with the gnomAD browser did not provide any evidence that this sequence change is a norm variant that can also be detected in non-affected individuals; the mutation occurs at a frequency of 0.0004% (gnomAD), and never in the homozygous state; Based on the finding that the unaffected mother of index patient is a carrier and assuming complete penetrance, the sequence variants in the SYNE2 gene most likely represent rare familial variants.

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