ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met)

dbSNP: rs753480401
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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 RCV001874609 SCV002134706 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2024-07-26 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 418 of the ACVRL1 protein (p.Val418Met). This variant is present in population databases (rs753480401, gnomAD 0.0009%). This missense change has been observed in individuals with clinical features of hereditary hemorrhagic telangiectasia and/or pulmonary arterial hypertension (Invitae). ClinVar contains an entry for this variant (Variation ID: 1369226). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACVRL1 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001874609 SCV005637363 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2024-03-29 criteria provided, single submitter clinical testing

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