ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7365C>T (p.Gly2455=)

gnomAD frequency: 0.00001  dbSNP: rs758896718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002308885 SCV002601123 uncertain significance not provided 2022-05-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Athena Diagnostics RCV002308885 SCV005622641 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites. This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease.

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