ClinVar Miner

Submissions for variant NM_000020.2(ACVRL1):c.940C>T (p.His314Tyr) (rs1565594311)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706665 SCV000835730 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 314 of the ACVRL1 protein (p.His314Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hereditary hemorrhagic telangiectasia (HHT) (PMID: 15024723, 15880681, 16690726). Experimental studies have shown that this missense change results in abnormal protein folding and cellular localization (PMID: 26176610). For these reasons, this variant has been classified as Pathogenic.

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