ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del)

dbSNP: rs1232740498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001956814 SCV002249189 uncertain significance Amyotrophic lateral sclerosis type 21 2022-11-08 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant, c.2533_2535del, results in the deletion of 1 amino acid(s) of the MATR3 protein (p.Lys845del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV003313254 SCV004012274 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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