ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4488_4496del (p.Glu1499_Phe1501del)

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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 RCV003293512 SCV004004026 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The c.4488_4496delAGATTTTGA variant (also known as p.E1499_F1501del) is located in coding exon 22 of the DICER1 gene. This variant results from an in-frame AGATTTTGA deletion at nucleotide positions 4488 to 4496. This results in the in-frame deletion of a glutamic acid, aspartic acid, and phenylalanine at codons 1499-1501. This amino acid position region well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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