ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.13582_13606del (p.Ser4528fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812817 SCV000953143 uncertain significance Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2018-12-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PLEC gene (p.Ser4528Profs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the PLEC protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PLEC-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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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