ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.853C>T (p.Leu285Phe) (rs1085307410)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388094 SCV001588945 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 285 of the ACVRL1 protein (p.Leu285Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 15024723, 21158752, 31400083, Invitae). ClinVar contains an entry for this variant (Variation ID: 426018). 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. This variant disrupts the p.Leu285 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been observed in individuals with ACVRL1-related conditions (PMID: 22632830), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Medical & Molecular Genetics Group,University of Lincoln RCV000488544 SCV000576324 pathogenic Primary pulmonary hypertension 1 no assertion criteria provided literature only

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