ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.2087_2089AGA[2] (p.Lys698del) (rs782157103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523043 SCV000618654 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PLEC gene. The c.2093_2095delAGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2093_2095delAGA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2093_2095delAGA variant results in an in-frame deletion of one amino acid, denoted p.Lys698del. This variant occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, other in-frame deletions or missense variants have not been reported at nearby residues in the Human Gene Mutation Database (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000648506 SCV000770326 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 2017-09-22 criteria provided, single submitter clinical testing This variant, c.2093_2095delAGA, results in the deletion of 1 amino acid of the PLEC protein (p.Lys698del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782157103, ExAC 0.01%). This variant has not been reported in the literature in individuals with PLEC-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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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