ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)

gnomAD frequency: 0.00001  dbSNP: rs752205161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667746 SCV000792245 uncertain significance Cobalamin C disease 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667746 SCV003523221 likely pathogenic Cobalamin C disease 2022-07-11 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 MMACHC protein function. ClinVar contains an entry for this variant (Variation ID: 552478). This missense change has been observed in individual(s) with MMACHC-related conditions (PMID: 26287336, 29340559). This variant is present in population databases (rs752205161, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 117 of the MMACHC protein (p.Ala117Pro).

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