ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)

gnomAD frequency: 0.00001  dbSNP: rs191643294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330507 SCV001522200 uncertain significance Methylmalonic aciduria, cblA type 2020-01-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV001330507 SCV001805868 uncertain significance Methylmalonic aciduria, cblA type 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV001330507 SCV003786293 uncertain significance Methylmalonic aciduria, cblA type 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 386 of the MMAA protein (p.Arg386Gln). This variant is present in population databases (rs191643294, 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: 1029265). 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.

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