ClinVar Miner

Submissions for variant NM_020975.6(RET):c.553T>G (p.Phe185Val)

dbSNP: rs1048022444
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001024249 SCV001186232 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-06 criteria provided, single submitter clinical testing The p.F185V variant (also known as c.553T>G), located in coding exon 3 of the RET gene, results from a T to G substitution at nucleotide position 553. The phenylalanine at codon 185 is replaced by valine, an amino acid with highly similar properties. This amino acid position is 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.

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