ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) (rs1085307415)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507211 SCV000602431 pathogenic not specified 2017-01-04 criteria provided, single submitter clinical testing
Invitae RCV000525054 SCV000639386 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-10-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 352 of the ACVRL1 protein (p.Ala352Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). ClinVar contains an entry for this variant (Variation ID: 426023). This variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 16690726, 19357124, Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Medical & Molecular Genetics Group,University of Lincoln RCV000488852 SCV000576329 pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia no assertion criteria provided literature only

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