ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3847+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047580 SCV001211546 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2019-12-30 criteria provided, single submitter clinical testing This sequence change falls in intron 31 of the PRKDC gene. It does not directly change the encoded amino acid sequence of the PRKDC protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs766747088, ExAC 0.002%). This variant has not been reported in the literature in individuals with PRKDC-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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