ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1573C>G (p.Arg525Gly)

dbSNP: rs545625150
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692964 SCV000820816 uncertain significance Multiple endocrine neoplasia, type 2 2024-04-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 525 of the RET protein (p.Arg525Gly). This variant is present in population databases (rs545625150, gnomAD 0.001%). 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: 571739). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV001012215 SCV001172641 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-19 criteria provided, single submitter clinical testing The p.R525G variant (also known as c.1573C>G), located in coding exon 8 of the RET gene, results from a C to G substitution at nucleotide position 1573. The arginine at codon 525 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002261180 SCV002541058 uncertain significance not provided 2021-04-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV003459690 SCV004206721 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005046939 SCV005674361 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-03-27 criteria provided, single submitter clinical testing

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