ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4])

dbSNP: rs782811601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262949 SCV001441008 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537643 SCV003291109 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 2023-12-25 criteria provided, single submitter clinical testing This variant, c.5921_5926dup, results in the insertion of 2 amino acid(s) of the PLEC protein (p.Glu1974_Leu1975dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. 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.
Revvity Omics, Revvity RCV003490161 SCV004236162 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing

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