ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser)

dbSNP: rs1555153133
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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 RCV000640443 SCV000762034 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly309 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been observed in individuals with ACVRL1-related conditions (PMID: 16705692, 21132305), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 533349). This missense change has been observed in individuals with hereditary haemorrhagic telangiectasia (PMID: 15517393, 17384219, 21158752, 22991266, 26245826). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 309 of the ACVRL1 protein (p.Gly309Ser).
Mayo Clinic Laboratories, Mayo Clinic RCV004791659 SCV005414081 likely pathogenic not provided 2024-09-06 criteria provided, single submitter clinical testing PP3, PM2, PM5, PS4_moderate

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