ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224676 SCV001396890 uncertain significance Hereditary hemorrhagic telangiectasia 2020-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 72 of the ENG protein (p.Pro72Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with pulmonary arterial hypertension (PMID: 29743074). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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