ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.215+4_215+5insACAG

dbSNP: rs1555462432
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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 RCV000500112 SCV000592728 uncertain significance not provided no assertion criteria provided clinical testing The PKD1 c.215+4_215+5insACAG variant was not identified in the literature nor was it identified in the 1000 Genomes Project , NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (March 14, 2016) databases. In addition, the variant was not identified in the Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD and PKD1-LOVD 3.0 databases. This c.215+4_215+5insACAG variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. However, positions +3 to +6 are part of the splicing consensus sequence and variants involving these positions sometimes affect splicing. Five of 5 in-silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict the creation of a new 5’ splice donor site, increasing the likelihood this variant may have clinical significance. 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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