ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1639G>T (p.Asp547Tyr)

dbSNP: rs1837955355
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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 RCV002403515 SCV002707672 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-07 criteria provided, single submitter clinical testing The p.D547Y variant (also known as c.1639G>T), located in coding exon 8 of the RET gene, results from a G to T substitution at nucleotide position 1639. The aspartic acid at codon 547 is replaced by tyrosine, an amino acid with highly dissimilar 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.

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