ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys)

gnomAD frequency: 0.00001  dbSNP: rs761657622
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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 RCV000800792 SCV000940526 uncertain significance Methylcobalamin deficiency type cblG 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1164 of the MTR protein (p.Arg1164Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs761657622, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
GeneDx RCV004777876 SCV005392557 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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