ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)

dbSNP: rs1555152468
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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 RCV000558413 SCV000639397 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-09-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 50 of the ACVRL1 protein (p.Trp50Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with clinical features of hereditary hemorrhagic telangiectasia in a family (Invitae). ClinVar contains an entry for this variant (Variation ID: 464760). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant disrupts the p.Trp50 amino acid residue in ACVRL1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9245985, 12843319, 10187774, 14684682, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Department of Human Genetics, Hannover Medical School RCV002512113 SCV002822951 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia 2023-01-20 criteria provided, single submitter clinical testing

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