ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2212C>A (p.Pro738Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961956 SCV005475125 uncertain significance Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing The c.2212C>A (p.P738T) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a C to A substitution at nucleotide position 2212, causing the proline (P) at amino acid position 738 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006591 SCV005643143 uncertain significance Polycystic kidney disease, adult type 2024-06-13 criteria provided, single submitter clinical testing

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