ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6098C>T (p.Ala2033Val)

gnomAD frequency: 0.00001  dbSNP: rs782712639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301419 SCV000335877 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000810933 SCV000951174 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 2023-06-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 283648). 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782712639, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2060 of the PLEC protein (p.Ala2060Val).
Revvity Omics, Revvity RCV000301419 SCV003814943 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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