ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4569CGAGGC[3] (p.Ala1527_Ala1528insGluAla)

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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 RCV003812671 SCV004608330 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 2023-12-31 criteria provided, single submitter clinical testing This variant, c.4656_4661dup, results in the insertion of 2 amino acid(s) of the PLEC protein (p.Glu1553_Ala1554dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782365801, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. 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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