ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)

gnomAD frequency: 0.00004  dbSNP: rs750466610
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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 RCV002818094 SCV003610781 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.2550C>G (p.D850E) alteration is located in exon 11 (coding exon 11) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 2550, causing the aspartic acid (D) at amino acid position 850 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021702 SCV005643105 uncertain significance Polycystic kidney disease, adult type 2024-05-13 criteria provided, single submitter clinical testing

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