Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000441336 | SCV000511095 | pathogenic | not provided | 2016-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000456313 | SCV000546364 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-08-29 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 881 of the SH3TC2 protein (p.Asn881Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in two individuals affected with autosomal recessive Charcot Marie Tooth disease (PMID: 16924012, 21291453). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this missense change alters the cellular localization of the SH3TC2 protein as well as its interactions with other proteins (PMID: 20028792, 20826437, 23553667). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV000789561 | SCV000928917 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only | ||
Genesis Genome Database | RCV000456313 | SCV000999723 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-08-14 | no assertion criteria provided | research |