ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5620T>G (p.Trp1874Gly)

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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 RCV004961891 SCV005468774 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.5620T>G (p.W1874G) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a T to G substitution at nucleotide position 5620, causing the tryptophan (W) at amino acid position 1874 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006583 SCV005643486 uncertain significance Polycystic kidney disease, adult type 2024-01-05 criteria provided, single submitter clinical testing

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