Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611863 | SCV000711954 | uncertain significance | not specified | 2016-04-21 | criteria provided, single submitter | clinical testing | The p.Arg43His variant in SLC26A4 has not been previously reported in individual s with cardiomyopathy but has been identified in 3/8246 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs372116042). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. Computational pre diction tools and conservation analysis do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the p.Ar g43His variant is uncertain. |
Counsyl | RCV000664751 | SCV000788760 | uncertain significance | Pendred syndrome | 2016-12-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001785682 | SCV002026991 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000664751 | SCV002026992 | uncertain significance | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506451 | SCV002800186 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2021-09-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529307 | SCV003282116 | uncertain significance | not provided | 2021-12-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 43 of the SLC26A4 protein (p.Arg43His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with deafness (PMID: 23555729). ClinVar contains an entry for this variant (Variation ID: 504923). 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 SLC26A4 protein function. 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. |
Ce |
RCV002529307 | SCV004010709 | uncertain significance | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000664751 | SCV002079960 | uncertain significance | Pendred syndrome | 2020-03-05 | no assertion criteria provided | clinical testing |