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 2024-03-14 criteria provided, single submitter clinical testing Observed in apparent homozygous state or with another MTRR variant in patients referred for genetic testing at GeneDx or in published literature with features suggestive of homocystinuria, cblE complementation type, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in some cases (PMID: 22887477, 10484769); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10484769, 22887477)
Fulgent Genetics, Fulgent Genetics RCV002501867 SCV002810276 likely pathogenic Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2024-03-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003470854 SCV004198761 likely pathogenic Neural tube defects, folate-sensitive 2024-03-29 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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