ClinVar Miner

Submissions for variant NM_006254.4(PRKCD):c.1043A>G (p.Asn348Ser)

gnomAD frequency: 0.00064  dbSNP: rs33911937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506287 SCV000604915 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing The p.Asn348Ser variant (rs33911937) has not been reported in the medical literature or gene specific variation databases. This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.10 percent (identified on 13 out of 13,006 chromosomes) and is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.089 percent (identified on 108 out of 121,348 chromosomes). The asparagine at position 348 is highly conserved, up to Frog (considering 15 species) (Alamut v2.9.0) but is also serine in Elephant suggesting this change may be evolutionarily tolerated. Computational analyses of the effects of the p.Asn348Ser variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Asn348Ser variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV001081059 SCV000773784 benign Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD 2024-01-12 criteria provided, single submitter clinical testing

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