ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr)

dbSNP: rs1555451184
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501185 SCV000592823 uncertain significance not provided no assertion criteria provided clinical testing The PKD1 p.Cys2804Tyr variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project, the Exome Aggregation Consortium database (March 14 2016), Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD, and PKD1-LOVD 3.0 databases. The p.Cys2804 residue is conserved across mammals and other organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) all suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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