ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12899C>T (p.Pro4300Leu)

dbSNP: rs1429123436
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003417048 SCV004118230 uncertain significance PKD1-related disorder 2022-12-16 criteria provided, single submitter clinical testing The PKD1 c.12899C>T variant is predicted to result in the amino acid substitution p.Pro4300Leu. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), 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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