ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7575C>T (p.Phe2525=) (rs144409293)

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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 RCV000757657 SCV000885958 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing The PKD1 c.7575C>T; p.Phe2525Phe variant (rs144409293) has been described in one individual with autosomal dominant polycystic kidney disease, but was not thought to be causative of disease (Carrera 2016). It is listed as likely neutral in the Mayo ADPKD database (see link for Mayo ADPKD database and references therein) and is observed in the general population at an overall frequency of 0.04% (110/271818 alleles) in the Genome Aggregation Database. This is a synonymous variant in a moderately conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. Based on available information, this variant is considered likely benign. References: Link to Mayo ADPKD Database: http://pkdb.mayo.edu/cgi-bin/v2_display_mutations.cgi?GENE=PKD1&apkd_mode=PROD Carrera P et al. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sci Rep. 2016 Aug 8;6:30850.

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