ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.68A>G (p.Asn23Ser)

gnomAD frequency: 0.00010  dbSNP: rs760845484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299106 SCV001488185 uncertain significance Methylcobalamin deficiency type cblG 2022-01-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 23 of the MTR protein (p.Asn23Ser). This variant is present in population databases (rs760845484, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002650). 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 tolerated. 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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