ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)

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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 RCV002419137 SCV002678611 pathogenic Diamond-Blackfan anemia 2016-06-23 criteria provided, single submitter clinical testing The p.K27* pathogenic mutation (also known as c.79A>T), located in coding exon 2 of the RPS19 gene, results from an A to T substitution at nucleotide position 79. This changes the amino acid from a lysine to a stop codon within coding exon 2. Since premature stop codons 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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