ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8728G>A (p.Val2910Met)

gnomAD frequency: 0.00006  dbSNP: rs375607727
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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 RCV000694732 SCV000823190 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 2023-11-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2937 of the PLEC protein (p.Val2937Met). This variant is present in population databases (rs375607727, gnomAD 0.02%). 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: 573143). 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. 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 RCV003133539 SCV003817395 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535730 SCV004120394 uncertain significance PLEC-related disorder 2023-09-29 criteria provided, single submitter clinical testing The PLEC c.8809G>A variant is predicted to result in the amino acid substitution p.Val2937Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-144995261-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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