ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13130del (p.Gly4377fs)

dbSNP: rs2130806650
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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 RCV001904623 SCV002124609 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 2021-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly4404Alafs*17) in the PLEC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 171 amino acid(s) 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 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. This variant disrupts the C-terminus of the PLEC protein. Other variant(s) that disrupt this region (p.Glu4492Glyfs*48) have been observed in individuals with PLEC-related conditions (PMID: 12071635). This suggests that this may be a clinically significant region of the protein. 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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