ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9239A>G (p.Glu3080Gly)

gnomAD frequency: 0.00038  dbSNP: rs200069306
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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) RCV000597019 SCV000709500 uncertain significance not provided 2017-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000804590 SCV000944507 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 2023-04-12 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 502669). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs200069306, gnomAD 0.1%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3107 of the PLEC protein (p.Glu3107Gly).
Revvity Omics, Revvity RCV000597019 SCV003815504 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024863 SCV005005110 uncertain significance Inborn genetic diseases 2024-01-17 criteria provided, single submitter clinical testing The c.9320A>G (p.E3107G) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a A to G substitution at nucleotide position 9320, causing the glutamic acid (E) at amino acid position 3107 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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