ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3539G>A (p.Gly1180Glu)

dbSNP: rs1581827172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788598 SCV000927765 likely pathogenic not provided 2018-06-27 criteria provided, single submitter clinical testing
3billion RCV002051894 SCV002318593 likely pathogenic Polycystic kidney disease 4 2022-03-22 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PKHD1 related disorder (ClinVar ID: VCV000636692, PMID:26862157). In silico tool predictions suggest damaging effect of the variant on gene or gene product(REVEL: 0.677>=0.6, 3CNET: 0.973>=0.75, SPLICEAI: 0.8>=0.8). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002051894 SCV004807362 likely pathogenic Polycystic kidney disease 4 2024-03-26 criteria provided, single submitter clinical testing

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