ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2780_2782CGG[1] (p.Ala928del)

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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 RCV000756527 SCV000884362 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The PKD1 c.2783_2785delCGG; p.Ala928del variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database) indicating it is not a common polymorphism. This variant deletes a single alanine residue leaving the rest of the protein in-frame. Several other in-frame single amino acid deletions have been reported and are considered to be highly likely pathogenic (see Mayo ADPKD mutation database). However, given the lack of clinical and functional data, the significance of the p.Ala928del variant is uncertain at this time. REFERENCES Mayo ADPKD mutation database: http://pkdb.mayo.edu/cgi-bin/v2_display_mutations.cgi?apkd_mode=PROD&username=

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