ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12220GAG[1] (p.Glu4075del)

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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 RCV003784413 SCV004572721 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2024-01-12 criteria provided, single submitter clinical testing This variant, c.12304_12306del, results in the deletion of 1 amino acid(s) of the PLEC protein (p.Glu4102del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782071263, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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