ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.5981T>C (p.Leu1994Pro)

gnomAD frequency: 0.00001  dbSNP: rs886044775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325114 SCV000338173 uncertain significance not provided 2015-12-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000325114 SCV003817915 uncertain significance not provided 2019-07-16 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509199 SCV000607090 not provided 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 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV004737398 SCV005359336 uncertain significance PLEC-related disorder 2024-08-31 no assertion criteria provided clinical testing The PLEC c.6062T>C variant is predicted to result in the amino acid substitution p.Leu2021Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0021% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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