ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.990_990+4del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003236687 SCV003935158 likely pathogenic Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-06-22 criteria provided, single submitter clinical testing The c.990_990+4del variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature nor reported to clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious. This variant causes loss of exon-intron donor splice-junction and is predicted to affect splicing of mRNA by the activation of a cryptic donor site.

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