ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8684A>C (p.Asn2895Thr)

dbSNP: rs1219270797
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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 RCV003896660 SCV004713737 uncertain significance PKD1-related disorder 2023-10-31 no assertion criteria provided clinical testing The PKD1 c.8684A>C variant is predicted to result in the amino acid substitution p.Asn2895Thr. 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. The p.Asn2895 residue is weakly conserved during evolution and at this position is an asparagine (Asn) only in human. Although we suspect that this variant may be benign, 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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