ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2115C>T (p.Ser705=)

gnomAD frequency: 0.00001  dbSNP: rs1247902894
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863364 SCV001004013 likely benign Multiple endocrine neoplasia, type 2 2024-08-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415988 SCV002726403 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-22 criteria provided, single submitter clinical testing The c.2115C>T variant (also known as p.S705S), located in coding exon 11 of the RET gene, results from a C to T substitution at nucleotide position 2115. This nucleotide substitution does not change the serine at codon 705. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV000863364 SCV004822918 uncertain significance Multiple endocrine neoplasia, type 2 2023-04-03 criteria provided, single submitter clinical testing This variant is located in the RET protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RET-related disorders in the literature. This variant has been identified in 3/248166 chromosomes 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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