ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.703del (p.Asp235fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002378278 SCV002667094 pathogenic Cardiovascular phenotype 2016-03-08 criteria provided, single submitter clinical testing The c.703delG pathogenic mutation, located in coding exon 5 of the ACVRL1 gene, results from a deletion of one nucleotide at nucleotide position 703, causing a translational frameshift with a predicted alternate stop codon (p.D235Mfs*23). 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV003509729 SCV004308033 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2023-05-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp235Metfs*23) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1756828). This variant has not been reported in the literature in individuals affected with ACVRL1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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