ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7963G>T (p.Val2655Phe)

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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 RCV004648366 SCV005153328 uncertain significance Inborn genetic diseases 2024-06-04 criteria provided, single submitter clinical testing The c.7963G>T (p.V2655F) alteration is located in exon 21 (coding exon 21) of the PKD1 gene. This alteration results from a G to T substitution at nucleotide position 7963, causing the valine (V) at amino acid position 2655 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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