ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1135C>A (p.His379Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001294530 SCV001483411 uncertain significance Hereditary hemorrhagic telangiectasia 2020-10-15 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 379 of the ENG protein (p.His379Asn). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ENG-related conditions. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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