ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) (rs764262721)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725125 SCV000334293 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000403112 SCV000539101 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported in 1 proband with juvenile polyposis
Invitae RCV001053352 SCV001217610 uncertain significance Hereditary hemorrhagic telangiectasia 2020-05-23 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 571 of the ENG protein (p.Arg571Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764262721, ExAC 0.02%). This variant has been observed in an individual affected with juvenile polyposis (PMID: 16287957). ClinVar contains an entry for this variant (Variation ID: 282707). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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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