ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.7727A>T (p.Asn2576Ile)

gnomAD frequency: 0.00002  dbSNP: rs754276862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036023 SCV002295108 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-02-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SYNE2-related conditions. This sequence change replaces asparagine with isoleucine at codon 2576 of the SYNE2 protein (p.Asn2576Ile). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs754276862, ExAC 0.003%). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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