ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3715G>A (p.Asp1239Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005007428 SCV005643357 uncertain significance Polycystic kidney disease, adult type 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV005392934 SCV006046173 uncertain significance Inborn genetic diseases 2025-01-20 criteria provided, single submitter clinical testing The c.3715G>A (p.D1239N) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 3715, causing the aspartic acid (D) at amino acid position 1239 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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