ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.1321G>A (p.Val441Met) (rs1565596498)

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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 RCV000755786 SCV000883358 likely pathogenic not provided 2018-04-22 criteria provided, single submitter clinical testing The ACVRL1 c.1321G>A; p.Val441Met variant is reported in the literature in families with HHT (Abdalla 2005, Lenato 2006, Yuan 2015). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 441 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered likely pathogenic. REFERENCES Abdalla SA et al. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia. Hum Mutat. 2005 Mar;25(3):320-1. 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. Yuan D et al. Gene analysis in a family of hereditary hemorrhagic telangiectasia. Zhonghua Xue Ye Xue Za Zhi. 2015 Feb;36(2):112-5.

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