ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4394C>T (p.Pro1465Leu)

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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 RCV004651972 SCV005153369 uncertain significance Inborn genetic diseases 2024-05-21 criteria provided, single submitter clinical testing The c.4394C>T (p.P1465L) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 4394, causing the proline (P) at amino acid position 1465 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Prenatal Diagnosis Center, Inner Mongolia Medical University RCV002293273 SCV002584986 pathogenic Polycystic kidney disease, adult type 2021-03-18 no assertion criteria provided clinical testing

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