ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)

gnomAD frequency: 0.00040  dbSNP: rs147005473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113125 SCV001270868 likely benign Telangiectasia, hereditary hemorrhagic, type 2 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001113125 SCV001728086 benign Telangiectasia, hereditary hemorrhagic, type 2 2023-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001113125 SCV002524595 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365802 SCV002665218 likely benign Cardiovascular phenotype 2022-02-11 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.

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