ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)

dbSNP: rs2139064475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385584 SCV001585479 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-04-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ACVRL1-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro39Thrfs*129) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002456602 SCV002615752 pathogenic Cardiovascular phenotype 2016-02-16 criteria provided, single submitter clinical testing The c.115_116delCC pathogenic mutation, located in coding exon 2 of the ACVRL1 gene, results from a deletion of two nucleotides between positions 115 and 116, causing a translational frameshift with a predicted alternate stop codon (p.P39Tfs*129). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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