ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.3080A>G (p.Asp1027Gly)

gnomAD frequency: 0.00001  dbSNP: rs751033972
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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 RCV001948800 SCV002214856 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2021-03-12 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is present in population databases (rs751033972, ExAC 0.002%). This sequence change replaces aspartic acid with glycine at codon 1027 of the PRKDC protein (p.Asp1027Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.
Ambry Genetics RCV004043004 SCV003964514 uncertain significance not specified 2023-03-21 criteria provided, single submitter clinical testing The c.3080A>G (p.D1027G) alteration is located in exon 27 (coding exon 27) of the PRKDC gene. This alteration results from a A to G substitution at nucleotide position 3080, causing the aspartic acid (D) at amino acid position 1027 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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