ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2279G>T (p.Gly760Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004334115 SCV005004662 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.2279G>T (p.G760V) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a G to T substitution at nucleotide position 2279, causing the glycine (G) at amino acid position 760 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 RCV003332927 SCV005643135 uncertain significance Polycystic kidney disease, adult type 2024-04-18 criteria provided, single submitter clinical testing
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" RCV003332927 SCV004040467 likely benign Polycystic kidney disease, adult type 2023-07-03 no assertion criteria provided clinical testing

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