ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.977-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471641 SCV002769057 likely pathogenic Polycystic kidney disease 4 2022-02-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as likely pathogenic. The following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 4, with or without hepatic disease (MIM#263200). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0115 - Variants in this gene are known to have variable expressivity. Significant intrafamilial variation in disease severity has been reported (GeneReviews). (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. Skipping of adjacent exon 14 is predicted to result in a frameshift. (SP) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 0703 - Another canonical splice site variant comparable to the one identified in this case has moderate previous evidence for pathogenicity. A different variant in the same splice site (c.977-1G>A) has been shown to cause polycystic kidney disease (ClinVar, PMID: 12506140). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Baylor Genetics RCV002471641 SCV004204579 likely pathogenic Polycystic kidney disease 4 2023-08-18 criteria provided, single submitter clinical testing

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