ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)

gnomAD frequency: 0.06104  dbSNP: rs1127354
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV001787323 SCV000268158 drug response peginterferon alfa-2b and ribavirin response - Toxicity 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications.
Labcorp Genetics (formerly Invitae), Labcorp RCV000015867 SCV001726918 benign Inosine triphosphatase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001711071 SCV001939337 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17113761, 22060550, 22613675, 19914375, 24621321, 23528839, 19631656, 25525159, 22939045, 20173735, 21659334, 19682085, 23547827, 20547162, 20637204, 12384777, 27703193, 26394463, 30106365, 19579612)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001804735 SCV002051024 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
OMIM RCV000015867 SCV000036134 affects Inosine triphosphatase deficiency 2009-09-25 no assertion criteria provided literature only

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