ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.488C>T (p.Thr163Met)

gnomAD frequency: 0.00001  dbSNP: rs758706191
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000655948 SCV000586837 uncertain significance Developmental and epileptic encephalopathy, 35 criteria provided, single submitter research
Invitae RCV000530658 SCV000639498 uncertain significance Inosine triphosphatase deficiency 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 163 of the ITPA protein (p.Thr163Met). This variant is present in population databases (rs758706191, gnomAD 0.006%). This missense change has been observed in individual(s) with ITPase deficiency (PMID: 30542205, 35098521). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 431714). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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