ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1078C>A (p.Arg360=)

dbSNP: rs1424549058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000679709 SCV000806994 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768034 SCV004679759 uncertain significance Multiple endocrine neoplasia, type 2 2023-09-27 criteria provided, single submitter clinical testing This sequence change affects codon 360 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 (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 560860). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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