ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)

gnomAD frequency: 0.00004  dbSNP: rs779575471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220579 SCV001392577 uncertain significance Cobalamin C disease 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 245 of the MMACHC protein (p.Ser245Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs779575471, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Natera, Inc. RCV001220579 SCV002089558 uncertain significance Cobalamin C disease 2020-10-11 no assertion criteria provided clinical testing

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