ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)

dbSNP: rs121434591
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517083 SCV000614054 pathogenic not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000015039 SCV000653847 pathogenic Amyotrophic lateral sclerosis type 21 2023-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects MATR3 function (PMID: 24686783). 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 MATR3 protein function. ClinVar contains an entry for this variant (Variation ID: 14002). This missense change has been observed in individual(s) with autosomal dominant distal myopathy with variable vocal cord weakness, pharyngeal weakness and respiratory failure (PMID: 9837826, 19344878, 24686783, 25154462, 25677933, 25952333). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 85 of the MATR3 protein (p.Ser85Cys).
CeGaT Center for Human Genetics Tuebingen RCV000517083 SCV001248350 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000015039 SCV001428685 pathogenic Amyotrophic lateral sclerosis type 21 2019-12-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000015039 SCV002017223 pathogenic Amyotrophic lateral sclerosis type 21 2019-12-10 criteria provided, single submitter clinical testing
OMIM RCV000015039 SCV000035295 pathogenic Amyotrophic lateral sclerosis type 21 2014-11-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000015039 SCV000091147 likely pathogenic Amyotrophic lateral sclerosis type 21 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.