ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5602C>T (p.Arg1868Trp)

gnomAD frequency: 0.00059  dbSNP: rs200543521
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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 RCV000549715 SCV000650334 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 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001591253 SCV001814932 uncertain significance not provided 2021-11-22 criteria provided, single submitter clinical testing Identified, with two other PLEC variants, in two siblings with limb girdle muscular dystrophy and myasthenic symptoms in published literature (Fattahi et al., 2015); observed with a loss-of-function variant on the same allele (in cis); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25556389)
CeGaT Center for Human Genetics Tuebingen RCV001591253 SCV005330730 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PLEC: PP3, BS2

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