ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)

gnomAD frequency: 0.00004  dbSNP: rs374819399
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815060 SCV000955503 uncertain significance Amyotrophic lateral sclerosis type 21 2023-07-24 criteria provided, single submitter clinical testing 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. 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 MATR3 protein function. ClinVar contains an entry for this variant (Variation ID: 658267). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs374819399, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 187 of the MATR3 protein (p.Asp187Glu).
Revvity Omics, Revvity RCV000815060 SCV003808304 uncertain significance Amyotrophic lateral sclerosis type 21 2019-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540114 SCV004769202 uncertain significance MATR3-related disorder 2023-11-01 criteria provided, single submitter clinical testing The MATR3 c.561T>G variant is predicted to result in the amino acid substitution p.Asp187Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-138643665-T-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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