ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.11428G>A (p.Val3810Met)

gnomAD frequency: 0.00002  dbSNP: rs781838084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046958 SCV002109048 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 2023-09-15 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. 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. ClinVar contains an entry for this variant (Variation ID: 1349471). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs781838084, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 3837 of the PLEC protein (p.Val3837Met).
Revvity Omics, Revvity RCV003132550 SCV003811049 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing

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