ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.68C>T (p.Ala23Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004657303 SCV005147123 uncertain significance Inborn genetic diseases 2024-06-05 criteria provided, single submitter clinical testing The c.68C>T (p.A23V) alteration is located in exon 1 (coding exon 1) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 68, causing the alanine (A) at amino acid position 23 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005015223 SCV005640705 uncertain significance Polycystic kidney disease, adult type 2024-03-13 criteria provided, single submitter clinical testing

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