ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1469T>C (p.Leu490Ser) (rs763475207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539445 SCV000629558 uncertain significance Hereditary hemorrhagic telangiectasia 2018-08-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 490 of the ENG protein (p.Leu490Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is present in population databases (rs763475207, ExAC 0.002%). This variant has been reported to segregate with hemorrhagic telangiectasia in a single family (PMID: 16752392). ClinVar contains an entry for this variant (Variation ID: 458338). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on ENG function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GenomeConnect - Invitae Patient Insights Network RCV000539445 SCV001749639 not provided Hereditary hemorrhagic telangiectasia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-30-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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