Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484688 | SCV000566814 | pathogenic | not provided | 2017-02-21 | criteria provided, single submitter | clinical testing | The c.1887_1891delAAAAG variant was identified after homozygosity mapping in an individual with autosomal recessive Charcot Marie tooth disease (ARCMT); however no additional information was provided (Zimon et al., 2015). The c.1887_1891delAAAAG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1887_1891delAAAAG variant in the FGD4 gene causes a frameshift starting with codon Lysine 630, changes this amino acid to a Asparagine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.K630NfsX5. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the c.1887_1891delAAAAG variant is considered to be a pathogenic variant. |
Invitae | RCV001047299 | SCV001211247 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2021-08-24 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000789112 | SCV000928463 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |