Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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) |