ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.3380T>G (p.Ile1127Ser)

gnomAD frequency: 0.00001  dbSNP: rs567895583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476694 SCV000553500 likely benign DICER1-related tumor predisposition 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564833 SCV000661913 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-06 criteria provided, single submitter clinical testing The p.I1127S variant (also known as c.3380T>G), located in coding exon 20 of the DICER1 gene, results from a T to G substitution at nucleotide position 3380. The isoleucine at codon 1127 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly 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.
Baylor Genetics RCV001292761 SCV001481404 uncertain significance Euthyroid goiter 2020-09-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV004568090 SCV005059446 uncertain significance Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 2024-03-17 criteria provided, single submitter clinical testing

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