ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys)

gnomAD frequency: 0.00003  dbSNP: rs757346695
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793657 SCV000933021 uncertain significance Amyotrophic lateral sclerosis type 21 2023-06-14 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: 640602). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs757346695, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 758 of the MATR3 protein (p.Thr758Lys).
Revvity Omics, Revvity RCV000793657 SCV003808305 uncertain significance Amyotrophic lateral sclerosis type 21 2019-06-25 criteria provided, single submitter clinical testing

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