ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.175G>C (p.Asp59His)

gnomAD frequency: 0.00005  dbSNP: rs371779800
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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 RCV000820945 SCV000961683 uncertain significance Methylmalonic aciduria, cblA type 2022-10-08 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 59 of the MMAA protein (p.Asp59His). This variant is present in population databases (rs371779800, gnomAD 0.01%). 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: 663137). 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 not 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.
Natera, Inc. RCV000820945 SCV001452007 uncertain significance Methylmalonic aciduria, cblA type 2020-09-16 no assertion criteria provided clinical testing

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