ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs)

dbSNP: rs2139072772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002000045 SCV002229977 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser270Argfs*30) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary hemorrhagic telangiectasia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1452945). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002423133 SCV002677056 pathogenic Cardiovascular phenotype 2017-01-04 criteria provided, single submitter clinical testing The c.807_810delGAGC pathogenic mutation, located in coding exon 6 of the ACVRL1 gene, results from a deletion of 4 nucleotides at nucleotide positions 807 to 810, causing a translational frameshift with a predicted alternate stop codon (p.S270Rfs*30). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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