ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.2090C>T (p.Thr697Met)

gnomAD frequency: 0.00001  dbSNP: rs377415956
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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) RCV000595419 SCV000702528 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476284 SCV000897301 uncertain significance Polycystic kidney disease 4 2022-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531003 SCV003699503 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.2090C>T (p.T697M) alteration is located in exon 21 (coding exon 20) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 2090, causing the threonine (T) at amino acid position 697 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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