ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)

gnomAD frequency: 0.00037  dbSNP: rs142896669
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226902 SCV000283530 likely benign Hereditary hemorrhagic telangiectasia 2024-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454429 SCV000539100 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2 probands, no segs in HGMD; ExAC: 0.2% (25/11560) Latino chromosomes
Wendy Chung Laboratory, Columbia University Medical Center RCV000664173 SCV000784732 uncertain significance Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Illumina Laboratory Services, Illumina RCV001166478 SCV001328859 benign Telangiectasia, hereditary hemorrhagic, type 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV002225526 SCV002504123 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002399808 SCV002704491 likely benign Cardiovascular phenotype 2017-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Molecular Genetics, Royal Melbourne Hospital RCV001166478 SCV004812797 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2023-05-04 criteria provided, single submitter clinical testing European Non-Finnish population allele frequency is 0.12% (rs142896669, 54/35,428 alleles, 0 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.4.1, this variant is classified as LIKELY BENIGN. Following criteria are met: BS1
Rare Disease Genomics Group, St George's University of London RCV000488732 SCV000576357 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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