ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.710-10T>G

gnomAD frequency: 0.00001  dbSNP: rs1727324181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001859236 SCV002171491 uncertain significance Autosomal dominant polycystic kidney disease 2022-02-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 997245). This variant has been observed in individual(s) with polycystic kidney disease (PMID: 26453610). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 2 of the PKD2 gene. It does not directly change the encoded amino acid sequence of the PKD2 protein.
Fulgent Genetics, Fulgent Genetics RCV002493535 SCV002782127 uncertain significance Polycystic kidney disease 2 2021-11-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292248 SCV001481095 uncertain significance Polycystic kidney disease no assertion criteria provided clinical testing The PKD2 c.710-10T>G variant was identified in 1 of 440 proband chromosomes (frequency: 0.002) from individuals or families with ADPKD (Hwang 2016). The variant was not identified in dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database, or PKD1-LOVD databases. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 3 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. 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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