ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3703C>T (p.Arg1235Trp)

gnomAD frequency: 0.00006  dbSNP: rs376121326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591315 SCV000702747 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV001453690 SCV001657386 likely benign Autosomal recessive polycystic kidney disease 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532394 SCV003677292 uncertain significance Inborn genetic diseases 2021-07-15 criteria provided, single submitter clinical testing The c.3703C>T (p.R1235W) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 3703, causing the arginine (R) at amino acid position 1235 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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