ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.119G>A (p.Arg40Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV002282751 SCV002570246 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q 2022-06-02 criteria provided, single submitter clinical testing This PLEC variant is rare (<0.1%) in a large population dataset (gnomAD: 2/250348 total alleles; 0.0008%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the arginine residue at this position is strongly conserved across the vertebrate species assessed. Bioinformatic analysis predicts that this variant would not affect normal exon 2 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.119G>A to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774922 SCV004576162 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 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1704364). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 67 of the PLEC protein (p.Arg67Gln).

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