ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2875_2876delinsTT (p.Gly959Phe)

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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 RCV003802853 SCV004591711 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 2022-11-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 986 of the PLEC protein (p.Gly986Phe). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PLEC-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database.

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