ClinVar Miner

Submissions for variant NM_016222.4(DDX41):c.38C>T (p.Thr13Ile)

gnomAD frequency: 0.00010  dbSNP: rs61736559
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769396 SCV002001266 uncertain significance not provided 2023-11-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed as a probable germline variant in individuals with myeloid neoplasms (PMID: 30963592); This variant is associated with the following publications: (PMID: 36672294, 30963592)
Genetic Services Laboratory, University of Chicago RCV001821994 SCV002071873 uncertain significance not specified 2021-09-29 criteria provided, single submitter clinical testing DNA sequence analysis of the DDX41 gene demonstrated a sequence change, c.38C>T, in exon 2 that results in an amino acid change, p.Thr13Ile. This sequence change does not appear to have been previously described in individuals with DDX41-related disorders and has been described in the gnomAD database with a frequency of 0.23% in the Ashkenazi Jewish subpopulation (dbSNP rs61736559). The p.Thr13Ile change affects a poorly conserved amino acid residue located in a domain of the DDX41 protein that is not known to be functional. The p.Thr13Ile substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidence and the lack of functional studies, the clinical significance of the p.Thr13Ile change remains unknown at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001769396 SCV003490529 likely benign not provided 2024-08-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470888 SCV004190933 uncertain significance DDX41-related hematologic malignancy predisposition syndrome 2023-11-18 criteria provided, single submitter clinical testing

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