ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.759C>T (p.His253=)

gnomAD frequency: 0.00006  dbSNP: rs374020751
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863544 SCV001004229 benign Telangiectasia, hereditary hemorrhagic, type 2 2023-11-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000863544 SCV001270870 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab RCV000863544 SCV002524597 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390756 SCV002668696 likely benign Cardiovascular phenotype 2016-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV003311902 SCV004010165 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ACVRL1: BP4, BP7, BS1

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