ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala)

gnomAD frequency: 0.00003  dbSNP: rs1341672915
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517500 SCV000614484 uncertain significance not specified 2016-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023517 SCV005004650 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.12850A>G (p.T4284A) alteration is located in exon 46 (coding exon 46) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 12850, causing the threonine (T) at amino acid position 4284 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010472 SCV005638980 uncertain significance Polycystic kidney disease, adult type 2024-04-16 criteria provided, single submitter clinical testing

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