ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1638G>A (p.Met546Ile)

gnomAD frequency: 0.00001  dbSNP: rs748592981
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241398 SCV001414412 uncertain significance Amyotrophic lateral sclerosis type 21 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 546 of the MATR3 protein (p.Met546Ile). This variant is present in population databases (rs748592981, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 966664). 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. 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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