Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700877 | SCV000829653 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 651 of the PRX protein (p.Asp651Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs3814290, ExAC 0.06%). This variant has been reported as homozygous in an individual affected with Charcot-Marie-Tooth disease(PMID: 22847150). ClinVar contains an entry for this variant (Variation ID: 38452). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Gene |
RCV000032002 | SCV000054711 | pathologic | Charcot-Marie-Tooth disease, demyelinating, type 4F | 2012-09-13 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
OMIM | RCV000032002 | SCV000056675 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 4F | 2012-11-01 | no assertion criteria provided | literature only | |
Uni |
RCV000059812 | SCV000091382 | not provided | not provided | no assertion provided | not provided | ||
Inherited Neuropathy Consortium | RCV000789073 | SCV000928422 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |