ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1550T>G (p.Leu517Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403378 SCV002704325 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-01 criteria provided, single submitter clinical testing The p.L517R variant (also known as c.1550T>G), located in coding exon 8 of the RET gene, results from a T to G substitution at nucleotide position 1550. The leucine at codon 517 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100719 SCV003290234 uncertain significance Multiple endocrine neoplasia, type 2 2022-12-10 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1775057). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 517 of the RET protein (p.Leu517Arg).
Fulgent Genetics, Fulgent Genetics RCV005042823 SCV005674351 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-02-27 criteria provided, single submitter clinical testing

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