Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV003313924 | SCV004013532 | pathogenic | Methemoglobinemia, alpha type | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.92; 3Cnet: 0.72). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with HBA1 related disorder (PMID: 10477710). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 10477710, 3957697, 6998928). Different missense changes at the same codon (p.His88Asp, p.His88Gln, p.His88Pro) have been reported to be associated with HBA1 related disorder (ClinVar ID: VCV001809522 / PMID: 18310146, 27225845). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. | |
| OMIM | RCV000017103 | SCV000037375 | other | HEMOGLOBIN M (IWATE) | 2018-05-10 | no assertion criteria provided | literature only | |
| OMIM | RCV000017104 | SCV000037376 | other | HEMOGLOBIN M (KANKAKEE) | 2018-05-10 | no assertion criteria provided | literature only | |
| OMIM | RCV000017105 | SCV000037377 | other | HEMOGLOBIN M (OLDENBURG) | 2018-05-10 | no assertion criteria provided | literature only | |
| OMIM | RCV000017106 | SCV000037378 | other | HEMOGLOBIN M (SENDAI) | 2018-05-10 | no assertion criteria provided | literature only |