ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1760-3C>T

gnomAD frequency: 0.00001  dbSNP: rs587781734
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129928 SCV000184746 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-30 criteria provided, single submitter clinical testing The c.1760-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 10 in the RET gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000465909 SCV000543783 uncertain significance Multiple endocrine neoplasia, type 2 2024-01-05 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the RET gene. It does not directly change the encoded amino acid sequence of the RET protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with breast cancer (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 141420). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV000662818 SCV000785660 uncertain significance Multiple endocrine neoplasia type 2A 2017-10-23 criteria provided, single submitter clinical testing
Mendelics RCV000662818 SCV000838389 uncertain significance Multiple endocrine neoplasia type 2A 2018-07-02 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662818 SCV004018471 uncertain significance Multiple endocrine neoplasia type 2A 2023-04-18 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
All of Us Research Program, National Institutes of Health RCV000465909 SCV005430348 uncertain significance Multiple endocrine neoplasia, type 2 2024-05-14 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -3 position of intron 9 of the RET gene. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast cancer (PMID: 35264596). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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