ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)

gnomAD frequency: 0.00001  dbSNP: rs149156000
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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 RCV003370836 SCV004065327 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.3767C>T (p.P1256L) 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 3767, causing the proline (P) at amino acid position 1256 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012896 SCV005643344 uncertain significance Polycystic kidney disease, adult type 2024-01-24 criteria provided, single submitter clinical testing

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