ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1252G>C (p.Ala418Pro) (rs150293362)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707628 SCV000836730 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2018-02-19 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 418 of the ENG protein (p.Ala418Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs150293362, ExAC 0.006%). This variant has been reported in an individual with hereditary hemorrhagic telangectasia, however, this individual also carried a truncating variant in the ACVRL1 gene (PMID: 25312062). Experimental studies have shown that this missense change does not affect cellular localization or ALK1-induced BMP9 response (PMID: 25312062). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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