ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8120G>A (p.Gly2707Asp)

gnomAD frequency: 0.00011  dbSNP: rs201254195
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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) RCV000591619 SCV000706016 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV001455016 SCV001658756 likely benign Autosomal recessive polycystic kidney disease 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532508 SCV003555291 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.8120G>A (p.G2707D) alteration is located in exon 51 (coding exon 50) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 8120, causing the glycine (G) at amino acid position 2707 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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