ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1260+7G>A

gnomAD frequency: 0.00012  dbSNP: rs374605708
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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 RCV000912986 SCV001058120 likely benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-12-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000912986 SCV003920353 uncertain significance Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2022-12-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.02% [16/68016]; https://gnomad.broadinstitute.org/variant/3-53186347-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID: 737247). Evolutionary conservation and computational prediction tools for this variant are limited or unavailable. This is an intronic variant with no predicted change in the amino acid sequence, but it may have an unknown effect on splicing. Splice prediction tools do not suggest that this variant may affect splicing. However, further studies are needed to understand its 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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