ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)

gnomAD frequency: 0.00001  dbSNP: rs1204400776
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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 RCV001278260 SCV002202049 uncertain significance Methylmalonic aciduria, cblA type 2021-12-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 275 of the MMAA protein (p.Ile275Thr). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MMAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 990274). 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 MMAA 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 RCV001278260 SCV005662991 uncertain significance Methylmalonic aciduria, cblA type 2024-04-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278260 SCV001465258 uncertain significance Methylmalonic aciduria, cblA type 2020-09-14 no assertion criteria provided clinical testing

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