ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.382G>A (p.Gly128Ser)

gnomAD frequency: 0.00002  dbSNP: rs1309847765
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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 RCV001352427 SCV001546979 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 2023-03-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 155 of the PLEC protein (p.Gly155Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1047678). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PLEC protein function. 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.
Revvity Omics, Revvity RCV003132457 SCV003811068 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004960853 SCV005476087 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.463G>A (p.G155S) alteration is located in exon 6 (coding exon 5) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 463, causing the glycine (G) at amino acid position 155 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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