ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.206C>T (p.Ala69Val)

dbSNP: rs2151858171
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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 RCV001354318 SCV001548904 uncertain significance not provided no assertion criteria provided clinical testing The PKD1 p.Ala69Val variant was not identified in the literature nor was it identified in dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database or PKD1-LOVD. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, 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 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. The p.Ala69 residue is conserved in in mammals but not in more distantly related organisms however computational analyses (SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out 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. This variant was not verified clinically and we cannot rule out the possibility this variant may have occurred in a pseudogene of PKD1.

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