Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766293 | SCV000239006 | uncertain significance | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing | The c.1172_1174delGTT sequence change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1172_1174delGTT deletion causes the loss of a single Cysteine residue at amino acid position 391, denoted p.Cys391del. Other in-frame deletions have been reported in association with methionine synthase reductase deficiency. However, whether or not the loss of a single Cysteine residue at this position in the MTRR protein is expected to affect the function of the MTRR protein is not known. Therefore, based on the currently available information, it is unclear whether c.1172_1174delGTT is a pathogenic variant or a rare benign variant. |
Illumina Laboratory Services, |
RCV000374314 | SCV000458442 | uncertain significance | Disorders of Intracellular Cobalamin Metabolism | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000186042 | SCV000604301 | uncertain significance | not specified | 2019-05-22 | criteria provided, single submitter | clinical testing | The c.1091_1093delGTT variant (rs796052001), also known as c.1090_1092delTGT (rs557138082), removes 3 nucleotides from the coding sequence of the MTRR gene which results in the removal of a single cysteine amino acid at position 364 from the protein sequence. The p.Cys364del variant has not been reported in the medical literature or, gene specific variation databases but has been reported to ClinVar (Variation ID: 203842). This variant is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.13 percent (identified on 160 out of 121,384 chromosomes, including 1 homozygote). Altogether, there is not enough evidence to classify the p.Cys364del variant with certainty. |
Invitae | RCV001080399 | SCV001094440 | likely benign | Methylcobalamin deficiency type cblE | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001080399 | SCV001459130 | benign | Methylcobalamin deficiency type cblE | 2020-04-17 | no assertion criteria provided | clinical testing |