ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.12732G>A (p.Ser4244=) (rs201043674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546457 SCV000660396 uncertain significance Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2017-01-19 criteria provided, single submitter clinical testing This sequence change affects codon 4244 of the PLEC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PLEC protein. This variant is present in population databases (rs201043674, ExAC 0.002%) but has not been reported in the literature in individuals with a PLEC-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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