ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2288A>G (p.Asn763Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002446186 SCV002734745 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-23 criteria provided, single submitter clinical testing The p.N763S variant (also known as c.2288A>G), located in coding exon 13 of the RET gene, results from an A to G substitution at nucleotide position 2288. The asparagine at codon 763 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005042833 SCV005674283 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2024-03-13 criteria provided, single submitter clinical testing

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