ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.734A>T (p.Lys245Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338172 SCV004047160 uncertain significance Amyotrophic lateral sclerosis type 21 criteria provided, single submitter clinical testing The c.734A>T (p.Lys245Ile) missense variant in MATR3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Lys245Ile variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Lys at position 245 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Lys245Ile in MATR3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS)

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