ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10789T>C (p.Phe3597Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003901986 SCV004714778 uncertain significance PKHD1-related disorder 2024-02-14 criteria provided, single submitter clinical testing The PKHD1 c.10789T>C variant is predicted to result in the amino acid substitution p.Phe3597Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004369747 SCV005006764 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.10789T>C (p.F3597L) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a T to C substitution at nucleotide position 10789, causing the phenylalanine (F) at amino acid position 3597 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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