ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del)

dbSNP: rs1555453367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516522 SCV000614526 uncertain significance not specified 2016-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525061 SCV003631583 uncertain significance Inborn genetic diseases 2023-01-31 criteria provided, single submitter clinical testing The c.7169_7171delAGG (p.E2390del) alteration, located in coding exon 17 of the PKD1 gene, results from an in-frame deletion of 3 nucleotides at positions c.7169 to c.7171. This results in the deletion of a glutamic acid residue at codon 2390. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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