ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.2920G>A (p.Gly974Arg) (rs367695725)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560058 SCV000650226 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 2017-06-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 974 of the PLEC protein (p.Gly974Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs367695725, ExAC 0.04%). This variant has not been reported in the literature in individuals with a PLEC-related disease. In summary, this variant has uncertain impact on PLEC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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