ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1179T>G (p.Cys393Trp)

gnomAD frequency: 0.00020  dbSNP: rs782237146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728834 SCV000856451 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001315168 SCV001505726 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 2023-04-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 593715). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782237146, gnomAD 0.06%). This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 420 of the PLEC protein (p.Cys420Trp).
Revvity Omics, Revvity RCV000728834 SCV003817313 uncertain significance not provided 2021-03-18 criteria provided, single submitter clinical testing

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