ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10940A>C (p.His3647Pro)

gnomAD frequency: 0.00006  dbSNP: rs139442289
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592739 SCV000707651 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483640 SCV002781992 uncertain significance Polycystic kidney disease 4 2024-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532582 SCV003594143 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.10940A>C (p.H3647P) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a A to C substitution at nucleotide position 10940, causing the histidine (H) at amino acid position 3647 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000592739 SCV005189042 uncertain significance not provided criteria provided, single submitter not provided

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