ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.688G>C (p.Ala230Pro)

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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 RCV003539701 SCV004272460 uncertain significance Emery-Dreifuss muscular dystrophy 2023-07-28 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 sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 230 of the SUN2 protein (p.Ala230Pro). This variant is present in population databases (rs757781167, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SUN2-related conditions.

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