Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001388086 | SCV001588933 | pathogenic | Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia | 2021-02-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects SLC26A2 protein function (PMID: 20219950, 23369989). 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 expected to disrupt SLC26A2 protein function. This variant has been observed in individual(s) with clinical features of diastrophic dysplasia or multiple epiphyseal dysplasia (PMID: 11241838, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1184C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 56012). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 386 of the SLC26A2 protein (p.Ala386Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
| Baylor Genetics | RCV003474627 | SCV004201766 | likely pathogenic | Achondrogenesis, type IB | 2023-06-19 | criteria provided, single submitter | clinical testing | |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049421 | SCV000081854 | probable-pathogenic | Diastrophic dysplasia | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |