ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003071385 SCV003453323 uncertain significance Amyotrophic lateral sclerosis type 21 2023-05-23 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 2145321). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs774450220, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 845 of the MATR3 protein (p.Lys845Glu).

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