ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys)

gnomAD frequency: 0.00006  dbSNP: rs782531580
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724841 SCV000331995 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000724841 SCV000576969 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000576206 SCV000677074 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 2024-05-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 3669 of the PLEC protein (p.Tyr3669Cys). This variant is present in population databases (rs782531580, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 281287). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV000724841 SCV003817334 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000724841 SCV005409524 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing

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