ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)

gnomAD frequency: 0.00006  dbSNP: rs150411351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880607 SCV002126414 uncertain significance Methylcobalamin deficiency type cblE 2022-09-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 513 of the MTRR protein (p.Gly513Arg). This variant is present in population databases (rs150411351, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MTRR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1357137). 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 not expected to disrupt MTRR protein function. 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 RCV002482479 SCV002787545 uncertain significance Methylcobalamin deficiency type cblE; Neural tube defects, folate-sensitive 2022-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004946777 SCV005445973 likely benign Inborn genetic diseases 2024-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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