ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.2930C>T (p.Pro977Leu)

gnomAD frequency: 0.00001  dbSNP: rs773050327
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001989993 SCV002228583 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing 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: "Benign"; 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. ClinVar contains an entry for this variant (Variation ID: 1450144). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 977 of the EPHB4 protein (p.Pro977Leu). This variant is present in population databases (rs773050327, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EPHB4-related conditions.
Ambry Genetics RCV004043948 SCV004866211 likely benign Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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