ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12490C>G (p.Gln4164Glu)

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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 RCV004577208 SCV005061118 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant criteria provided, single submitter clinical testing The missense c.12490C>G (p.Gln4164Glu) variant in the SYNE2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in gnomAD Exomes. The amino acid Glutamine at position 4164 is changed to a Glutamic acid changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted as damaging by SIFT. The amino acid change p.Gln4164Glu in SYNE2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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