ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)

dbSNP: rs1057520160
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000438685 SCV000511476 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001339627 SCV001533383 uncertain significance Methylmalonic aciduria, cblA type 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 381 of the MMAA protein (p.Thr381Ile). This variant is not present in population databases (gnomAD no frequency). 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: 377200). 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.
Ambry Genetics RCV002524729 SCV003735069 uncertain significance Inborn genetic diseases 2021-09-21 criteria provided, single submitter clinical testing The c.1142C>T (p.T381I) alteration is located in exon 7 (coding exon 6) of the MMAA gene. This alteration results from a C to T substitution at nucleotide position 1142, causing the threonine (T) at amino acid position 381 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina RCV000438685 SCV003802832 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing The MMAA c.1142C>T (p.Thr381Ile) missense variant results in the substitution of threonine at amino acid position 381 with isoleucine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. Based on the available evidence, the c.1142C>T (p.Thr381Ile) variant is classified as a variant of uncertain significance for methylmalonic aciduria, cblA type.
Natera, Inc. RCV001339627 SCV002084832 uncertain significance Methylmalonic aciduria, cblA type 2020-03-04 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.