ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.4630G>A (p.Gly1544Ser)

gnomAD frequency: 0.00002  dbSNP: rs746489977
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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 RCV000652354 SCV000774224 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-09-01 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. ClinVar contains an entry for this variant (Variation ID: 541991). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. This variant is present in population databases (rs746489977, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1544 of the PRKDC protein (p.Gly1544Ser).
Breakthrough Genomics, Breakthrough Genomics RCV004692043 SCV005195929 uncertain significance not provided criteria provided, single submitter not provided

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