ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1769+1G>A

gnomAD frequency: 0.00009  dbSNP: rs778738842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036277 SCV001199632 likely pathogenic Methylcobalamin deficiency type cblE 2024-11-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the MTRR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MTRR are known to be pathogenic (PMID: 15714522). This variant is present in population databases (rs778738842, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with clinical features of MTRR-related conditions (PMID: 30041674). ClinVar contains an entry for this variant (Variation ID: 835400). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV003461431 SCV004198755 pathogenic Neural tube defects, folate-sensitive 2024-03-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036304 SCV005673151 likely pathogenic Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2024-06-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001036277 SCV001458156 likely pathogenic Methylcobalamin deficiency type cblE 2020-09-16 no assertion criteria provided clinical testing

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