ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11342G>A (p.Gly3781Asp)

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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 RCV004720692 SCV005329586 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-05-20 criteria provided, single submitter clinical testing The missense c.11342G>A (p.Gly3781Asp) variant in the SYNE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Glycine at position 3781 is changed to a Aspartic acid changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid change p.Gly3781Asp in SYNE1 is predicted as conserved by PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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