ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)

dbSNP: rs892005175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047544 SCV001211509 uncertain significance Hereditary hemorrhagic telangiectasia 2022-02-03 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ENG protein function. ClinVar contains an entry for this variant (Variation ID: 844639). This variant has not been reported in the literature in individuals affected with ENG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 39 of the ENG protein (p.Arg39Lys).
Institute of Human Genetics, University Hospital Muenster RCV002287462 SCV002577833 uncertain significance Interstitial pneumonitis 2021-12-21 criteria provided, single submitter clinical testing ACMG categories: PM2,PM5,BP4
Fulgent Genetics, Fulgent Genetics RCV002505585 SCV002815593 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2021-12-29 criteria provided, single submitter clinical testing

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