ClinVar Miner

Submissions for variant NM_020975.6(RET):c.847G>C (p.Val283Leu)

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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 RCV002447633 SCV002680814 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-24 criteria provided, single submitter clinical testing The p.V283L variant (also known as c.847G>C), located in coding exon 4 of the RET gene, results from a G to C substitution at nucleotide position 847. The valine at codon 283 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Baylor Genetics RCV003464495 SCV004208713 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-08-08 criteria provided, single submitter clinical testing

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