ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10999C>G (p.Arg3667Gly)

dbSNP: rs373318830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648564 SCV000770384 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 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 3694 of the PLEC protein (p.Arg3694Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs373318830, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004659146 SCV005150108 uncertain significance Inborn genetic diseases 2024-03-31 criteria provided, single submitter clinical testing The c.11080C>G (p.R3694G) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a C to G substitution at nucleotide position 11080, causing the arginine (R) at amino acid position 3694 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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