ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu)

gnomAD frequency: 0.00001  dbSNP: rs759928245
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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 RCV002032241 SCV002315109 uncertain significance Amyotrophic lateral sclerosis type 21 2022-10-13 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: 1525141). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs759928245, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 719 of the MATR3 protein (p.Lys719Glu).
PreventionGenetics, part of Exact Sciences RCV004538753 SCV004121607 uncertain significance MATR3-related disorder 2022-12-15 criteria provided, single submitter clinical testing The MATR3 c.2155A>G variant is predicted to result in the amino acid substitution p.Lys719Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-138661135-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004982872 SCV005619626 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The c.2155A>G (p.K719E) alteration is located in exon 16 (coding exon 12) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 2155, causing the lysine (K) at amino acid position 719 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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