ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter)

dbSNP: rs772547714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035229 SCV002236410 pathogenic Methylcobalamin deficiency type cblE 2020-11-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MTRR-related conditions. This variant is present in population databases (rs772547714, ExAC 0.003%). This sequence change creates a premature translational stop signal (p.Glu375*) in the MTRR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522).
Baylor Genetics RCV004571699 SCV005056015 likely pathogenic Neural tube defects, folate-sensitive 2024-03-10 criteria provided, single submitter clinical testing

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