ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2623T>G (p.Leu875Val)

dbSNP: rs1588877642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002003308 SCV002268868 uncertain significance Multiple endocrine neoplasia, type 2 2022-09-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RET-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1483934). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 875 of the RET protein (p.Leu875Val).
Sema4, Sema4 RCV002258350 SCV002529986 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter curation
Baylor Genetics RCV003464359 SCV004208656 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002258350 SCV005490949 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-11 criteria provided, single submitter clinical testing The p.L875V variant (also known as c.2623T>G), located in coding exon 15 of the RET gene, results from a T to G substitution at nucleotide position 2623. The leucine at codon 875 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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