ClinVar Miner

Submissions for variant NM_006904.6(PRKDC):c.4138G>A (p.Ala1380Thr) (rs56209904)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768057 SCV000898911 uncertain significance Immunodeficiency 26 with or without neurologic abnormalities 2018-11-02 criteria provided, single submitter clinical testing PRKDC NM_006904.6 (LRG_162) exon 33 p.Ala1380Thr (c.4138G>A): This variant has not been reported in the literature but is present in 0.008% (3/34524) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/8-48801717-C-T). This variant amino acid Threonine (Thr) is present in 3 species (chinese hamster, golden hamster, tenrec) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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