Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411778 | SCV000486495 | pathogenic | Pendred syndrome | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001850953 | SCV002245845 | pathogenic | not provided | 2021-09-24 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 371034). This missense change has been observed in individual(s) with SLC26A4-related conditions (PMID: 17718863, 23385134, 24245694). 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 not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 94 of the SLC26A4 protein (p.Thr94Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000770857 | SCV004204241 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2022-12-03 | criteria provided, single submitter | clinical testing | |
Genetic Testing Center for Deafness, |
RCV000770857 | SCV000902363 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2019-02-26 | no assertion criteria provided | case-control |