ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2331C>A (p.Asn777Lys)

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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 RCV003377694 SCV004098451 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-12 criteria provided, single submitter clinical testing The p.N777K variant (also known as c.2331C>A), located in coding exon 13 of the RET gene, results from a C to A substitution at nucleotide position 2331. The asparagine at codon 777 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in a pediatric ALL patient (Gargallo P et al. Cancers (Basel), 2021 Oct;13:). 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.
Baylor Genetics RCV004572958 SCV005054229 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-11-27 criteria provided, single submitter clinical testing

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