ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.14003T>C (p.Val4668Ala)

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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 RCV002895794 SCV003249385 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-08-17 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. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 4668 of the SYNE2 protein (p.Val4668Ala). This variant is present in population databases (rs746225180, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2043364). 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 tolerated.

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