ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg)

gnomAD frequency: 0.00001  dbSNP: rs1426435123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756496 SCV000884327 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723152 SCV005340102 uncertain significance PKD1-related disorder 2024-04-25 no assertion criteria provided clinical testing The PKD1 c.1304A>G variant is predicted to result in the amino acid substitution p.Gln435Arg. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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