ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5781C>A (p.Asn1927Lys)

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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 RCV004961961 SCV005469489 uncertain significance Inborn genetic diseases 2024-10-08 criteria provided, single submitter clinical testing The c.5781C>A (p.N1927K) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to A substitution at nucleotide position 5781, causing the asparagine (N) at amino acid position 1927 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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