ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)

dbSNP: rs1940955941
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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 RCV001059934 SCV001224589 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2023-07-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hereditary hemorrhagic telangiectasia (Invitae). ClinVar contains an entry for this variant (Variation ID: 854809). 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 476 of the ACVRL1 protein (p.Pro476Leu).

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