ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)

gnomAD frequency: 0.00009  dbSNP: rs374795215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201672 SCV001372754 uncertain significance Methylmalonic aciduria, cblA type 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 314 of the MMAA protein (p.Arg314Cys). This variant is present in population databases (rs374795215, gnomAD 0.03%). 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: 933455). 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.
Genome-Nilou Lab RCV001201672 SCV001806068 uncertain significance Methylmalonic aciduria, cblA type 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163512 SCV003876658 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.940C>T (p.R314C) alteration is located in exon 6 (coding exon 5) of the MMAA gene. This alteration results from a C to T substitution at nucleotide position 940, causing the arginine (R) at amino acid position 314 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001201672 SCV002084829 uncertain significance Methylmalonic aciduria, cblA type 2020-03-20 no assertion criteria provided clinical testing

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