ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)

dbSNP: rs2131888946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001371210 SCV001567768 uncertain significance Hereditary hemorrhagic telangiectasia 2020-02-03 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 228 of the ENG protein (p.Ser228Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine.

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