ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4607G>A (p.Ser1536Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005391683 SCV006045338 uncertain significance Inborn genetic diseases 2025-03-01 criteria provided, single submitter clinical testing The c.4607G>A (p.S1536N) 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 4607, causing the serine (S) at amino acid position 1536 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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