ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2423A>C (p.Lys808Thr)

gnomAD frequency: 0.00002  dbSNP: rs767945255
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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 RCV000816192 SCV000956687 uncertain significance Multiple endocrine neoplasia, type 2 2024-07-16 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 808 of the RET protein (p.Lys808Thr). This variant is present in population databases (rs767945255, gnomAD 0.007%). 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: 659223). 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 disruptive. 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 RCV002442735 SCV002735188 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-25 criteria provided, single submitter clinical testing The p.K808T variant (also known as c.2423A>C), located in coding exon 14 of the RET gene, results from an A to C substitution at nucleotide position 2423. The lysine at codon 808 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036203 SCV005669754 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-02-16 criteria provided, single submitter clinical testing

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