ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.311G>A (p.Arg104Lys)

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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 RCV003539711 SCV004273197 uncertain significance Emery-Dreifuss muscular dystrophy 2023-09-19 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SUN2-related conditions. This variant is present in population databases (rs761298006, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 104 of the SUN2 protein (p.Arg104Lys).

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