ClinVar Miner

Submissions for variant NM_005957.4(MTHFR):c.330G>C (p.Met110Ile) (rs781158269)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693573 SCV000821446 uncertain significance Homocysteinemia due to MTHFR deficiency 2018-05-21 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 110 of the MTHFR protein (p.Met110Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs781158269, ExAC 0.2%). This variant has not been reported in the literature in individuals with MTHFR-related disease. Experimental studies have shown that this missense change has a mild effect on protein function (PMID: 18523009). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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