ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.3G>C (p.Met1Ile)

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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 RCV002375652 SCV002624446 pathogenic Diamond-Blackfan anemia 2016-08-04 criteria provided, single submitter clinical testing The p.M1? pathogenic mutation (also known as c.3G>C) is located in coding exon 1 of the RPS19 gene and results from a G to C substitution at nucleotide position 3. This alters the methionine residue at the initiation codon. This mutation was reported as a de novo occurrence in a patient with a clinical diagnosis of Diamond-Blackfan Anemia. The same study also described another affected individual with a mutation at the same codon (Ramenghi U et al. Blood Cells Mol. Dis., 2000 Oct;26:417-22). In addition to the clinical data presented in the literature, 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.

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