ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)

gnomAD frequency: 0.00003  dbSNP: rs1231598304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222263 SCV001394357 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2020-06-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 420 of the ACVRL1 protein (p.Asp420Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with pulmonary arterial hypertension or clinical features of hereditary hemorrhagic telangiectasia (PMID: 31727138, Invitae). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001222263 SCV002787153 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2022-02-09 criteria provided, single submitter clinical testing

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