ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)

dbSNP: rs1555152790
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771919 SCV002001595 uncertain significance not provided 2021-01-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV000660863 SCV002290325 uncertain significance Telangiectasia, hereditary hemorrhagic, type 2 2020-11-21 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 expected to disrupt ACVRL1 protein function. This variant has been observed in individual(s) with pulmonary arterial hypertension (Invitae). ClinVar contains an entry for this variant (Variation ID: 548119). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 193 of the ACVRL1 protein (p.Leu193Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Institute of Human Genetics, University of Goettingen RCV000660863 SCV000778829 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-06-28 no assertion criteria provided clinical testing

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