ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.698C>T (p.Ser233Leu) (rs762773076)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508251 SCV000602424 pathogenic not specified 2016-11-23 criteria provided, single submitter clinical testing
Invitae RCV001069361 SCV001234525 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2020-06-03 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 233 of the ACVRL1 protein (p.Ser233Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs762773076, ExAC 0.002%). This variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 16525724, 21158752, 19767588, Invitae). ClinVar contains an entry for this variant (Variation ID: 439385). 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. 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.

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