ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284954 SCV001471055 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2019-12-08 criteria provided, single submitter clinical testing The ACVRL1 c.687G>C; p.Lys229Asn variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The lysine at codon 229 is a highly conserved residue located in the ATP binding site of the protein (Interpro), and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, other amino acid alterations at this codon (Lys229Glu, Lys229Met, Lys229Arg) have been reported in individuals either clinically diagnosed with HHT or suspected to have HHT (Lenato 2006, Lesca 2004, see ClinVar Variation ID: 660559). Based on available information, this variant is considered to be likely pathogenic. REFERENCES Lenato GM et al. DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Hum Mutat. 2006 Feb;27(2):213-4. Lesca G et al. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99.

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