ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5347G>A (p.Glu1783Lys)

gnomAD frequency: 0.00001  dbSNP: rs782042846
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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) RCV000593375 SCV000707070 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222024 SCV001394103 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 2023-05-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 500914). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782042846, gnomAD 0.09%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1810 of the PLEC protein (p.Glu1810Lys). 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 RCV004024807 SCV005005051 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.5428G>A (p.E1810K) 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 5428, causing the glutamic acid (E) at amino acid position 1810 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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