ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1141T>C (p.Phe381Leu)

dbSNP: rs781362020
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017444 SCV001178527 likely benign Hereditary cancer-predisposing syndrome 2023-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001062743 SCV001227561 uncertain significance Multiple endocrine neoplasia, type 2 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 381 of the RET protein (p.Phe381Leu). This variant is present in population databases (rs781362020, gnomAD 0.03%). This missense change has been observed in individual(s) with osteosarcoma (PMID: 32179705). ClinVar contains an entry for this variant (Variation ID: 822241). 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. 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.
Revvity Omics, Revvity RCV003132142 SCV003816115 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) RCV003328101 SCV004035057 uncertain significance Multiple endocrine neoplasia type 2A 2023-06-10 criteria provided, single submitter clinical testing

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