ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3162-1G>C

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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 RCV002470582 SCV002768779 likely pathogenic Polycystic kidney disease, adult type 2021-05-06 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 1 (MIM#173900). (I) 0107 - This gene is associated with autosomal dominant disease. Polycystic kidney disease 1 is predominantly caused by monoallelic variants, with rare reports of biallelic variants causing disease (OMIM). (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. (SP) 0703 - Other canonical splice variants comparable to the one identified in this case have moderate previous evidence for pathogenicity. Variants at the same canonical splice site (c.3162-2A>G, c.3162-2A>T) have been reported in multiple individuals with polycystic kidney disease (pkdb.org, PMID: 12070253, PMID: 10612835, PMID: 17582161). (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) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics RCV002470582 SCV005640953 likely pathogenic Polycystic kidney disease, adult type 2024-06-10 criteria provided, single submitter clinical testing

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