Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004525853 | SCV005039550 | uncertain significance | not specified | 2024-03-29 | criteria provided, single submitter | clinical testing | Variant summary: MTR c.1228G>C (p.Ala410Pro) results in a non-conservative amino acid change located in the Pterin-binding domain (IPR000489) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251470 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1228G>C has been reported in the literature in an individual affected with Methylcobalamin deficiency type cblG (Watkins_2002). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 12068375). ClinVar contains an entry for this variant (Variation ID: 14288). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV005007853 | SCV005639647 | likely pathogenic | Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive | 2024-03-31 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000015358 | SCV000035619 | pathogenic | Methylcobalamin deficiency type cblG | 2002-07-01 | no assertion criteria provided | literature only |