ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1366G>A (p.Val456Met)

gnomAD frequency: 0.00003  dbSNP: rs782655007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002013057 SCV002294221 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 2022-12-06 criteria provided, single submitter clinical testing This variant is present in population databases (rs782655007, gnomAD 0.02%). This missense change has been observed in individual(s) with hyperCKemia (PMID: 31517061). ClinVar contains an entry for this variant (Variation ID: 1499814). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C15"). 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. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 483 of the PLEC protein (p.Val483Met).

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