ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3583G>C (p.Asp1195His)

dbSNP: rs1555369546
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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 RCV000569208 SCV000669418 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing The p.D1195H variant (also known as c.3583G>C), located in coding exon 20 of the DICER1 gene, results from a G to C substitution at nucleotide position 3583. The aspartic acid at codon 1195 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved through mammals but not in all 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.
Fulgent Genetics, Fulgent Genetics RCV005010545 SCV005637566 uncertain significance Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-04-18 criteria provided, single submitter clinical testing

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