ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1636A>G (p.Met546Val)

gnomAD frequency: 0.00001  dbSNP: rs1412628714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890717 SCV002156955 uncertain significance Amyotrophic lateral sclerosis type 21 2023-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1383033). 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. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 546 of the MATR3 protein (p.Met546Val).
GeneDx RCV002469421 SCV002765340 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004988850 SCV005619629 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.1636A>G (p.M546V) alteration is located in exon 13 (coding exon 9) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 1636, causing the methionine (M) at amino acid position 546 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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