ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13641C>G (p.Ala4547=)

gnomAD frequency: 0.00048  dbSNP: rs782535880
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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 RCV001086615 SCV000650191 likely benign 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 2025-01-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727741 SCV000855115 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000727741 SCV000968785 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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