ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg)

gnomAD frequency: 0.00001  dbSNP: rs782377096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516710 SCV000614629 uncertain significance not specified 2017-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000816472 SCV000956982 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 2023-08-30 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PLEC protein function. ClinVar contains an entry for this variant (Variation ID: 448066). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782377096, gnomAD 0.04%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1351 of the PLEC protein (p.Ser1351Arg).

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