ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5551G>A (p.Glu1851Lys)

gnomAD frequency: 0.00004  dbSNP: rs782074123
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727746 SCV000855123 uncertain significance not provided 2018-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000821992 SCV000962769 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 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1878 of the PLEC protein (p.Glu1878Lys). This variant is present in population databases (rs782074123, gnomAD 0.006%). 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: 592777). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Revvity Omics, Revvity RCV000727746 SCV003817270 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026933 SCV005005056 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.5632G>A (p.E1878K) 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 5632, causing the glutamic acid (E) at amino acid position 1878 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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