ClinVar Miner

Submissions for variant NM_001029.5(RPS26):c.2T>C (p.Met1Thr)

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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 RCV002435649 SCV002748824 pathogenic Diamond-Blackfan anemia 2015-12-01 criteria provided, single submitter clinical testing The p.M1? pathogenic mutation (also known as c.2T>C and p.M1T) is located in coding exon 1 of the RPS26 gene and results from a T to C substitution at nucleotide position 1. This alters the methionine residue at the initiation codon. Several disease-causing mutations have been described in the initiation codon. Since sequence variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation or cause a shift in the mRNA reading frame, 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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