ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.7377T>G (p.Ile2459Met)

gnomAD frequency: 0.00001  dbSNP: rs201173272
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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) RCV000351684 SCV000345510 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494896 SCV002789427 uncertain significance Polycystic kidney disease 4 2021-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021310 SCV005005316 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.7377T>G (p.I2459M) alteration is located in exon 47 (coding exon 46) of the PKHD1 gene. This alteration results from a T to G substitution at nucleotide position 7377, causing the isoleucine (I) at amino acid position 2459 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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