ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)

dbSNP: rs1567200117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712623 SCV000843140 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001535847 SCV001752458 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001535847 SCV002768775 pathogenic Polycystic kidney disease, adult type 2024-09-23 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as 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 (MIM#173900) is predominantly caused by monoallelic variants, with rare reports of biallelic variants causing disease (OMIM). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Many NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been classified as pathogenic by three clinical laboratories in ClinVar, and has been observed in individuals with polycystic kidney disease (PMID: 22383692, 22508176). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
PreventionGenetics, part of Exact Sciences RCV004723130 SCV005337758 pathogenic PKD1-related disorder 2024-07-31 no assertion criteria provided clinical testing The PKD1 c.4444C>T variant is predicted to result in premature protein termination (p.Gln1482*). This variant was reported in individuals with polycystic kidney disease (Rossetti et al. 2012. PubMed ID: 22383692; Table S3 of Bleyer et al. 2022. PubMed ID: 35325889). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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