ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7213C>T (p.Arg2405Cys)

gnomAD frequency: 0.00003  dbSNP: rs782579294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658421 SCV000780193 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PLEC gene. The R2432C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R2432C variant is observed in 2/14948 (0.01%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The R2432C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001203448 SCV001374614 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 2023-08-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 546528). 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 disruptive. This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782579294, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2432 of the PLEC protein (p.Arg2432Cys).
Revvity Omics, Revvity RCV000658421 SCV003815602 uncertain significance not provided 2019-02-27 criteria provided, single submitter clinical testing

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