ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10468A>G (p.Thr3490Ala)

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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 RCV004961979 SCV005469511 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The c.10465A>G (p.T3489A) alteration is located in exon 34 (coding exon 34) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 10465, causing the threonine (T) at amino acid position 3489 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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