ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.1798G>C (p.Asp600His)

dbSNP: rs1595406806
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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 RCV001013215 SCV001173770 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-07 criteria provided, single submitter clinical testing The p.D600H variant (also known as c.1798G>C), located in coding exon 10 of the DICER1 gene, results from a G to C substitution at nucleotide position 1798. The aspartic acid at codon 600 is replaced by histidine, an amino acid with similar properties. This amino acid position is not 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.

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