Submissions for variant NM_182914.3(SYNE2):c.6742G>A (p.Val2248Ile)

gnomAD frequency: 0.00001  dbSNP: rs767605722

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001055815	SCV001220225	uncertain significance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	2022-01-12	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 851423). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This variant is present in population databases (rs767605722, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2248 of the SYNE2 protein (p.Val2248Ile). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen	RCV003222207	SCV003917327	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SYNE2: BP4