ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.138G>A (p.Gln46=)

gnomAD frequency: 0.34252  dbSNP: rs8362
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522154 SCV001731635 benign Inosine triphosphatase deficiency 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001685414 SCV001899819 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730816 SCV001980786 benign Developmental and epileptic encephalopathy, 35 2021-08-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001806218 SCV002051174 benign not specified 2021-12-16 criteria provided, single submitter clinical testing Variant summary: ITPA c.138G>A results in a synonymous change. The variant allele was found at a frequency of 0.35 in 251486 control chromosomes in the gnomAD database, including 17111 homozygotes. The observed variant frequency is approximately 309.23 fold of the estimated maximal expected allele frequency for a pathogenic variant in ITPA causing Early Infantile Epileptic Encephalopathy, 35 phenotype (0.0011), strongly suggesting that the variant is benign. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001806218 SCV005087774 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 38% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 35. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001685414 SCV005309353 benign not provided criteria provided, single submitter not provided

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