ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13110C>T (p.Ala4370=)

gnomAD frequency: 0.00617  dbSNP: rs187810163
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117951 SCV000110706 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117951 SCV000269659 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala4507Ala in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9.1% (12/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http:// www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs187810163).
GeneDx RCV000117951 SCV000523597 benign not specified 2016-06-30 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.
Invitae RCV000576189 SCV000677085 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 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000117951 SCV001475962 benign not specified 2019-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483134 SCV002802870 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Junctional epidermolysis bullosa with pyloric atresia; 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 2021-11-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117951 SCV000152235 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117951 SCV002035070 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795058 SCV002035584 likely benign not provided no assertion criteria provided clinical testing

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