ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.12215A>G (p.Lys4072Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003140772 SCV003820886 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-06-10 criteria provided, single submitter clinical testing
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV003140772 SCV005397290 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-07-02 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (A>G) that results in a lysine to arginine amino acid change at position 4072 of the SYNE2 protein. This variant is not present in databases of clinically annotated variants (ClinVar) and is absent from control population datasets (gnomAD database 0 of approximately 250,000 alleles). This variant has not been reported in individuals with SYNE2-related disease in the literature, to our knowledge. Bioinformatic tools predict that this variant would be tolerated, and the Lys4072 residue is not well conserved across the mammalian species examined. Functiol studies examining the effect of this variant on protein structure or activity have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this to be a variant of uncertain significance. ACMG Criteria: BP4, PM2

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