ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2854-1G>T

dbSNP: rs2544845417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003373883 SCV004085734 likely pathogenic Inborn genetic diseases 2023-08-17 criteria provided, single submitter clinical testing The c.2854-1G>T intronic variant results from a G to T substitution one nucleotide before coding exon 12 of the PKD1 gene. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, this alteration is classified as likely pathogenic.

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