ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1878G>A (p.Gln626=) (rs147692872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468334 SCV000543832 uncertain significance Multiple endocrine neoplasia, type 2 2019-12-26 criteria provided, single submitter clinical testing This sequence change affects codon 626 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 (rs147692872, ExAC 0.008%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 405550). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, 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 RCV000662530 SCV000785096 uncertain significance Multiple endocrine neoplasia, type 2a 2017-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013505 SCV001174098 likely benign Hereditary cancer-predisposing syndrome 2015-08-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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