ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18382-1G>A

dbSNP: rs762660111
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV002293384 SCV002586275 likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-07-15 criteria provided, single submitter clinical testing The variant c.18382-1G>A in the SYNE1 gene affects the acceptor splice site of intron 97 and is therefore highly likely to impact the splicing process by causing the exclusion of the following exons from the mature transcript and the translation of an aberrant protein or a shift in the reading frame. The variant is reported with an estimated allele frequency of 0.000003989 in gnomAD exomes with no homozygous individuals reported.

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