ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.5210A>G (p.Asn1737Ser)

gnomAD frequency: 0.00001  dbSNP: rs767743327
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315312 SCV001505881 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-02-17 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is present in population databases (rs767743327, ExAC 0.008%). This sequence change replaces asparagine with serine at codon 1737 of the PRKDC protein (p.Asn1737Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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