ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.740del (p.Pro247fs)

dbSNP: rs752858024
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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 RCV001226293 SCV001398603 pathogenic Methylcobalamin deficiency type cblE 2023-02-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MTRR-related conditions. This sequence change creates a premature translational stop signal (p.Pro247Glnfs*21) 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). This variant is present in population databases (rs752858024, gnomAD 0.002%). ClinVar contains an entry for this variant (Variation ID: 953925). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462774 SCV004198753 likely pathogenic Neural tube defects, folate-sensitive 2023-08-10 criteria provided, single submitter clinical testing

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