ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1960A>G (p.Ile654Val)

gnomAD frequency: 0.00005  dbSNP: rs1027194623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204974 SCV001376207 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033635 SCV003864802 uncertain significance not specified 2025-01-31 criteria provided, single submitter clinical testing The c.1960A>G (p.I654V) alteration is located in exon 18 (coding exon 18) of the PRKDC gene. This alteration results from a A to G substitution at nucleotide position 1960, causing the isoleucine (I) at amino acid position 654 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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