ClinVar Miner

Submissions for variant NM_001021.6(RPS17):c.60del (p.Tyr21fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002360148 SCV002659983 pathogenic Diamond-Blackfan anemia 2015-12-22 criteria provided, single submitter clinical testing The c.60delC pathogenic mutation, located in coding exon 2 of the RPS17 gene, results from a deletion of one nucleotide at nucleotide position 60, causing a translational frameshift with a predicted alternate stop codon (p.Y21Tfs*30). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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