ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.1633G>A (p.Gly545Arg)

gnomAD frequency: 0.00001  dbSNP: rs758076166
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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 RCV000701926 SCV000830750 uncertain significance Emery-Dreifuss muscular dystrophy 2018-01-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with SUN2-related disease. This variant is present in population databases (rs758076166, ExAC 0.002%). This sequence change replaces glycine with arginine at codon 545 of the SUN2 protein (p.Gly545Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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