ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2374A>G (p.Ile792Val)

gnomAD frequency: 0.00006  dbSNP: rs766453846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001902975 SCV002165830 uncertain significance Amyotrophic lateral sclerosis type 21 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 792 of the MATR3 protein (p.Ile792Val). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1396414). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs766453846, gnomAD 0.02%).
Ambry Genetics RCV004641753 SCV005137280 uncertain significance Inborn genetic diseases 2024-03-21 criteria provided, single submitter clinical testing The c.2374A>G (p.I792V) alteration is located in exon 17 (coding exon 13) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 2374, causing the isoleucine (I) at amino acid position 792 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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