ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7703+1G>T

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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 RCV004648374 SCV005153351 likely pathogenic Inborn genetic diseases 2024-04-16 criteria provided, single submitter clinical testing The c.7703+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 19 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 alteration has been reported in an individual with PKD1-related polycystic kidney disease (Garcia-Gonzalez, 2007). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, this alteration is classified as likely pathogenic.

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