ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5212C>T (p.Arg1738Trp)

gnomAD frequency: 0.00001  dbSNP: rs782696997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623503 SCV000741595 uncertain significance Inborn genetic diseases 2016-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000812915 SCV000953245 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 2023-03-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs782696997, gnomAD 0.05%). 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: 521142). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1765 of the PLEC protein (p.Arg1765Trp).
Revvity Omics, Revvity RCV003133409 SCV003817208 uncertain significance not provided 2022-08-11 criteria provided, single submitter clinical testing

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