ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys)

gnomAD frequency: 0.00013  dbSNP: rs201455467
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528636 SCV000650467 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 2023-06-29 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 471671). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs201455467, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 3110 of the PLEC protein (p.Arg3110Cys).
Eurofins Ntd Llc (ga) RCV000728303 SCV000855857 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000728303 SCV001716014 uncertain significance not provided 2020-09-25 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000728303 SCV002771809 uncertain significance not provided 2022-03-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147506 SCV003834811 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q 2022-12-28 criteria provided, single submitter clinical testing

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