ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9825C>T (p.Arg3275=)

gnomAD frequency: 0.00001  dbSNP: rs1020554521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997358 SCV002236588 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 2021-10-27 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change affects codon 3302 of the PLEC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PLEC protein.

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