ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1374A>G (p.Pro458=)

gnomAD frequency: 0.00879  dbSNP: rs34828244
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196025 SCV000250073 benign not specified 2015-04-17 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 RCV000755255 SCV000262378 benign Hereditary hemorrhagic telangiectasia 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000196025 SCV000302334 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000196025 SCV000340690 benign not specified 2016-03-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000206022 SCV000477325 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000206022 SCV000603448 benign Telangiectasia, hereditary hemorrhagic, type 1 2023-11-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000196025 SCV001774482 benign not specified 2021-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001795317 SCV002498048 benign not provided 2024-04-01 criteria provided, single submitter clinical testing ENG: BP4, BP7, BS1, BS2
Ambry Genetics RCV002381666 SCV002696359 benign Cardiovascular phenotype 2015-06-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000196025 SCV001809594 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000196025 SCV001917677 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795317 SCV002036117 likely benign not provided no assertion criteria provided clinical testing

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