ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr)

gnomAD frequency: 0.00004  dbSNP: rs533152302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091872 SCV001248132 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497494 SCV002814875 uncertain significance Polycystic kidney disease, adult type 2022-05-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003973049 SCV004786654 uncertain significance PKD1-related disorder 2023-10-31 no assertion criteria provided clinical testing The PKD1 c.9631G>A variant is predicted to result in the amino acid substitution p.Ala3211Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2150248-C-T). The p.Ala3211 residue is weakly conserved during evolution and at this position is a threonine (Thr) in rat and mouse. Although we suspect this variant could be benign, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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