ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4129G>A (p.Glu1377Lys)

gnomAD frequency: 0.00002  dbSNP: rs782189077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222869 SCV001394991 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 2019-05-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1404 of the PLEC protein (p.Glu1404Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs782189077, ExAC 0.01%). This variant has not been reported in the literature in individuals with PLEC-related conditions. 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 RCV002563032 SCV003753177 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.4210G>A (p.E1404K) 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 4210, causing the glutamic acid (E) at amino acid position 1404 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132288 SCV003809073 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing

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