ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.177C>G (p.Thr59=)

gnomAD frequency: 0.00147  dbSNP: rs142098262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439395 SCV000532243 likely benign not specified 2016-10-11 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 RCV000871367 SCV001013012 benign Methylcobalamin deficiency type cblE 2024-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158030 SCV001319644 benign Disorders of Intracellular Cobalamin Metabolism 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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