ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2234C>T (p.Ala745Val)

gnomAD frequency: 0.00015  dbSNP: rs199797401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696564 SCV000825128 uncertain significance Amyotrophic lateral sclerosis type 21 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 745 of the MATR3 protein (p.Ala745Val). This variant is present in population databases (rs199797401, gnomAD 0.02%). 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: 574594). 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 with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV000696564 SCV003808297 uncertain significance Amyotrophic lateral sclerosis type 21 2019-05-28 criteria provided, single submitter clinical testing

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