ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro)

dbSNP: rs1592224402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821394 SCV000962149 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2023-05-26 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 343 of the ACVRL1 protein (p.Gln343Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with hereditary hemorrhagic telangiectasia (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 663509).

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