ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) (rs552292318)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000810 SCV001157873 uncertain significance Polycystic kidney disease, adult type 2018-09-11 criteria provided, single submitter clinical testing The PKD1 c.3344C>T; p.Thr1115Met variant (rs552292318) has been described in at least one individual with autosomal dominant polycystic kidney disease (ADPKD; Jin 2016). Although these authors suggested it is likely pathogenic, they don't provide criteria for variant classification. It is observed in the South Asian population at an overall frequency of 0.23% (70/30734 alleles) in the Genome Aggregation Database. The threonine at codon 1115 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to limited clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty. References: Jin M et al. System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. Sci Rep. 2016 Oct 26;6:35945.

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