ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6973A>G (p.Ile2325Val)

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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 RCV004961934 SCV005475090 uncertain significance Inborn genetic diseases 2024-07-09 criteria provided, single submitter clinical testing The c.6973A>G (p.I2325V) alteration is located in exon 16 (coding exon 16) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 6973, causing the isoleucine (I) at amino acid position 2325 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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