ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5943_5966dup (p.Arg1989_Val1990insArgArgArgGluAlaGluGluArg)

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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 RCV003796655 SCV004583688 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 2023-06-17 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 variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.6024_6047dup, results in the insertion of 8 amino acid(s) of the PLEC protein (p.Arg2009_Arg2016dup), but otherwise preserves the integrity of the reading frame.

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