ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)

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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 RCV002611813 SCV003508822 uncertain significance Amyotrophic lateral sclerosis type 21 2022-08-30 criteria provided, single submitter clinical testing This variant, c.94_96dup, results in the insertion of 1 amino acid(s) of the MATR3 protein (p.Ala32dup), but otherwise preserves the integrity of the reading frame. 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. This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs771230747, gnomAD 0.006%).

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