ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)

dbSNP: rs1596550396
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788603 SCV000927772 likely pathogenic not provided 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243296 SCV003964631 uncertain significance Inborn genetic diseases 2023-04-14 criteria provided, single submitter clinical testing The c.6752_6754delTGG (p.V2251del) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.6752 and c.6754, resulting in the deletion of <NA> residues. 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.
PreventionGenetics, part of Exact Sciences RCV003396369 SCV004105098 uncertain significance PKD1-related disorder 2023-08-09 criteria provided, single submitter clinical testing The PKD1 c.6752_6754delTGG variant is predicted to result in an in-frame deletion (p.Val2251del). This variant was reported in three individuals with polycystic kidney disease 1 (Table S4, Carrera et al. 2016. PubMed ID: 27499327; Table S6, Kim et al. 2019. PubMed ID: 31740684; Table 1, Li et al. 2022. PubMed ID: 34739738). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Genetic Services Laboratory, University of Chicago RCV000788603 SCV003839854 likely pathogenic not provided 2022-02-28 no assertion criteria provided clinical testing DNA sequence analysis of the PKD1 gene demonstrated a three base pair deletion in exon 15, c.6752_6754del. This in-frame deletion is predicted to result in the deletion of a single amino acid residue, p.Val2251del. This deletion has been previously described in individuals with polycystic kidney disease (PMID: 31740684, 27499327). The c.6752_6754del sequence change has not been described in the population databases such as ExAC and gnomAD. This sequence change is the likely cause of this individual's phenotype, however functional studies have not been performed to prove this conclusively.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333756 SCV004041624 uncertain significance Polycystic kidney disease, adult type 2023-10-09 no assertion criteria provided clinical testing

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