ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.52A>G (p.Ile18Val)

gnomAD frequency: 0.00001  dbSNP: rs753325140
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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 RCV001997272 SCV002237366 uncertain significance Methylcobalamin deficiency type cblE 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 18 of the MTRR protein (p.Ile18Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs753325140, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV005042579 SCV005673132 uncertain significance Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2024-01-30 criteria provided, single submitter clinical testing

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