ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.270del (p.Tyr91fs)

dbSNP: rs1579619636
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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 RCV000805731 SCV000945699 pathogenic Methylcobalamin deficiency type cblE 2018-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MTRR-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr91Metfs*20) in the MTRR gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003467413 SCV004198759 likely pathogenic Neural tube defects, folate-sensitive 2023-07-06 criteria provided, single submitter clinical testing

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