ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8511G>C (p.Glu2837Asp)

gnomAD frequency: 0.00006  dbSNP: rs369984112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596334 SCV000704600 uncertain significance not provided 2018-07-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001036265 SCV001199618 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 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2864 of the PLEC protein (p.Glu2864Asp). This variant is present in population databases (rs369984112, gnomAD 0.07%). 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: 499220). 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. 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.
Ambry Genetics RCV002531038 SCV003650793 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.8592G>C (p.E2864D) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a G to C substitution at nucleotide position 8592, causing the glutamic acid (E) at amino acid position 2864 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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