ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5674G>A (p.Glu1892Lys)

gnomAD frequency: 0.00013  dbSNP: rs201075382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243055 SCV001416188 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 2025-01-29 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 1919 of the PLEC protein (p.Glu1919Lys). This variant is present in population databases (rs201075382, gnomAD 0.04%). 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: 968010). 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.
Ambry Genetics RCV002564052 SCV003699246 uncertain significance Inborn genetic diseases 2022-09-29 criteria provided, single submitter clinical testing The c.5755G>A (p.E1919K) 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 5755, causing the glutamic acid (E) at amino acid position 1919 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132337 SCV003817954 uncertain significance not provided 2023-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003132337 SCV004010810 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing PLEC: PP3, BP1

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