ClinVar Miner

Submissions for variant NM_005957.5(MTHFR):c.671TCA[2] (p.Ile226del)

dbSNP: rs786204016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000167600 SCV005205321 likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency 2024-06-04 criteria provided, single submitter clinical testing Variant summary: MTHFR c.677_679delTCA (p.Ile226del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant was absent in 251488 control chromosomes. c.677_679delTCA has been reported in the literature in at-least one individual affected with Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency (Burda_2015). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in 1.7% of normal activity in the cell line from a patient carrying both the current variant and a pathogenic splice variant resulting in a null allele (Burda_2015). The following publication has been ascertained in the context of this evaluation (PMID: 25736335). ClinVar contains an entry for this variant (Variation ID: 187880). Based on the evidence outlined above, the variant was classified as likely pathogenic.
University Children's Hospital, University of Zurich RCV000167600 SCV000218481 pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency no assertion criteria provided clinical testing

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