ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)

dbSNP: rs137853061
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210727 SCV000262843 pathogenic Inborn genetic diseases 2013-11-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV003460433 SCV004198757 likely pathogenic Neural tube defects, folate-sensitive 2023-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000007446 SCV004292804 likely pathogenic Methylcobalamin deficiency type cblE 2023-08-28 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MTRR protein function. ClinVar contains an entry for this variant (Variation ID: 7030). This missense change has been observed in individual(s) with cobalamin E deficiency (PMID: 10484769, 12555939). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 487 of the MTRR protein (p.Gly487Arg).
GeneDx RCV004700198 SCV005201876 likely pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 15714522, 12555939, 10484769, 28330790)
OMIM RCV000007446 SCV000027646 pathogenic Methylcobalamin deficiency type cblE 2002-10-01 no assertion criteria provided literature only

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