ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6260G>A (p.Arg2087Gln)

gnomAD frequency: 0.00014  dbSNP: rs782091020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648532 SCV000770352 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 2023-05-15 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: 538967). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782091020, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2114 of the PLEC protein (p.Arg2114Gln).
Ambry Genetics RCV002530503 SCV003707763 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.6341G>A (p.R2114Q) alteration is located in exon 32 (coding exon 31) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 6341, causing the arginine (R) at amino acid position 2114 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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