ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3175A>T (p.Lys1059Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337737 SCV004047971 likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant criteria provided, single submitter clinical testing The stop gained c.3175A>T(p.Lys1059Ter) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.3175A>T variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change c.3175A>T in SYNE1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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