ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3364+5G>A

gnomAD frequency: 0.00001  dbSNP: rs771582404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001364840 SCV001561022 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-04-23 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the PRKDC gene. It does not directly change the encoded amino acid sequence of the PRKDC protein. It affects a nucleotide within the consensus splice site. 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 variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1056067). Variants that disrupt 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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