ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.11645_11647dup (p.Leu3882dup)

dbSNP: rs2153622305
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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 RCV001365825 SCV001562108 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-02-11 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 variant, c.11645_11647dup, results in the insertion of 1 amino acid(s) to the SYNE2 protein (p.Leu3882dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SYNE2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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