ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1326C>T (p.Leu442=)

gnomAD frequency: 0.00274  dbSNP: rs144781389
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443353 SCV000520453 benign not specified 2018-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000865444 SCV001006410 likely benign Methylcobalamin deficiency type cblE 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001152666 SCV001313889 likely benign Disorders of Intracellular Cobalamin Metabolism 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Fulgent Genetics, Fulgent Genetics RCV002488910 SCV002802718 likely benign Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2021-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437174 SCV004153916 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing MTRR: BP4, BP7
Natera, Inc. RCV000865444 SCV002077212 benign Methylcobalamin deficiency type cblE 2019-11-27 no assertion criteria provided clinical testing

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