Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001063433 | SCV001228278 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2023-06-29 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 839 of the SH3TC2 protein (p.Tyr839Cys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SH3TC2 protein function. ClinVar contains an entry for this variant (Variation ID: 857705). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. This variant is present in population databases (rs202139757, gnomAD 0.003%). |
| Ambry Genetics | RCV002553939 | SCV003548545 | uncertain significance | Inborn genetic diseases | 2021-12-02 | criteria provided, single submitter | clinical testing | The c.2516A>G (p.Y839C) alteration is located in exon 11 (coding exon 11) of the SH3TC2 gene. This alteration results from a A to G substitution at nucleotide position 2516, causing the tyrosine (Y) at amino acid position 839 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |