ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs)

dbSNP: rs2544614209
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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 RCV004506333 SCV005006700 pathogenic Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.11623_11650del28 (p.A3875Sfs*60) alteration, located in exon 42 (coding exon 42) of the PKD1 gene, consists of a deletion of 28 nucleotides from position 11623 to 11650, causing a translational frameshift with a predicted alternate stop codon after 60 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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