ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.3089C>T (p.Pro1030Leu)

gnomAD frequency: 0.00002  dbSNP: rs1439167190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Oncology Research Center, Barretos Cancer Hospital RCV001374567 SCV001438646 uncertain significance Hereditary breast ovarian cancer syndrome 2020-08-01 criteria provided, single submitter research
Invitae RCV002537619 SCV003463075 uncertain significance not provided 2023-07-07 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 981877). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1030 of the LIFR protein (p.Pro1030Leu).

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