ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3405C>G (p.Asp1135Glu)

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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 RCV004961982 SCV005469515 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The c.3405C>G (p.D1135E) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to G substitution at nucleotide position 3405, causing the aspartic acid (D) at amino acid position 1135 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 RCV005017305 SCV005640923 uncertain significance Polycystic kidney disease, adult type 2024-05-03 criteria provided, single submitter clinical testing

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