ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3920T>C (p.Ile1307Thr)

gnomAD frequency: 0.00001  dbSNP: rs1167261691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362702 SCV001558732 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-23 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1054230). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1307 of the PRKDC protein (p.Ile1307Thr).

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