ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.548G>A (p.Arg183Gln) (rs574132670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167596 SCV000944878 likely pathogenic Homocysteinemia due to MTHFR deficiency 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 183 of the MTHFR protein (p.Arg183Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs574132670, ExAC 0.04%). This variant has been observed in individuals affected with MTHFR deficiency (PMID: 25736335). ClinVar contains an entry for this variant (Variation ID: 187876). This variant has been reported to affect MTHFR protein function (PMID: 27743313). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000993916 SCV001147150 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
University Children's Hospital, University of Zurich RCV000167596 SCV000218477 pathogenic Homocysteinemia due to MTHFR deficiency no assertion criteria provided clinical testing

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