ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.6011G>C (p.Gly2004Ala)

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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 RCV005208398 SCV005849431 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-06-22 criteria provided, single submitter clinical testing The missense variant [c.6011G>C; p.Gly2004Ala] in the SYNE2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly2004Ala variant is absent in gnomAD Exomes. This variant has not been submitted in the ClinVar database. Multiple lines of computational evidences (Polyphen - Probably damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid change at this position on SYNE2 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Gly at position 2004 is changed to a Ala changing protein sequence and it might alter its composition and physicochemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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