ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10573C>T (p.Gln3525Ter)

gnomAD frequency: 0.00001  dbSNP: rs781837529
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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 RCV001939350 SCV002237106 pathogenic 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 2021-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3552*) in the PLEC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1023 amino acid(s) of the PLEC protein. This variant is present in population databases (rs781837529, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts a region of the PLEC protein in which other variant(s) (p.Lys4460*) have been determined to be pathogenic (PMID: 10652002). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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