ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.4703A>G (p.Asn1568Ser)

dbSNP: rs762873681
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347546 SCV001541812 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1568 of the PRKDC protein (p.Asn1568Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRKDC-related conditions. 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.

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