ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005006529 SCV005640547 likely pathogenic Polycystic kidney disease, adult type 2024-05-31 criteria provided, single submitter clinical testing
3billion RCV005006529 SCV005904615 uncertain significance Polycystic kidney disease, adult type 2023-09-18 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense variant Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PKD1-related disorder (PMID: 31740684). The variant has been observed in at least two similarly affected unrelated individuals (PMID: 31740684). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV004739976 SCV005353963 uncertain significance PKD1-related disorder 2024-07-18 no assertion criteria provided clinical testing The PKD1 c.1391T>C variant is predicted to result in the amino acid substitution p.Leu464Pro. This variant has been reported in two families undergoing genetic testing for autosomal dominant polycystic kidney disease by targeted exome sequencing (Table S6C, Family ID 41 and 306, Kim et al 2019. PubMed ID: 31740684). This variant has not been reported in a large population database, indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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