ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3057G>A (p.Ala1019=) (rs369579749)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119177 SCV000153909 uncertain significance Multiple endocrine neoplasia, type 2 2019-10-17 criteria provided, single submitter clinical testing This sequence change affects codon 1019 of the RET mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RET protein. This variant is present in population databases (rs369579749, ExAC 0.002%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 132727). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Counsyl RCV000410440 SCV000490051 likely benign Multiple endocrine neoplasia, type 2b 2016-10-13 criteria provided, single submitter clinical testing
Counsyl RCV000411953 SCV000490052 likely benign Multiple endocrine neoplasia, type 2a 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574003 SCV000674768 likely benign Hereditary cancer-predisposing syndrome 2015-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000613685 SCV000732775 likely benign not specified 2017-06-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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