ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.20288T>C (p.Ile6763Thr)

gnomAD frequency: 0.00002  dbSNP: rs758317659
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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 RCV001949948 SCV002197720 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 6763 of the SYNE2 protein (p.Ile6763Thr). This variant is present in population databases (rs758317659, gnomAD 0.02%). 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: 1428809). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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