ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.166G>A (p.Val56Met)

gnomAD frequency: 0.00002  dbSNP: rs761061866
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532514 SCV001748116 pathogenic not provided 2023-10-01 criteria provided, single submitter clinical testing MTRR: PM3:Strong, PM2, PP4:Moderate, PS3:Moderate
GeneDx RCV001532514 SCV001765914 likely pathogenic not provided 2021-06-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27535533, 10484769, 22887477)
Fulgent Genetics, Fulgent Genetics RCV002501867 SCV002810276 likely pathogenic Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2022-02-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470854 SCV004198761 likely pathogenic Neural tube defects, folate-sensitive 2023-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836441 SCV002084993 likely pathogenic Methylcobalamin deficiency type cblE 2021-03-04 no assertion criteria provided clinical testing

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