Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036470 | SCV000060125 | uncertain significance | not specified | 2012-10-30 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Pathogenic. The Asp687Tyr v ariant in SLC26A4 has not been previously identified by our laboratory. One stud y has shown that the Asp687Tyr variant impacts protein function (Dossena 2011). Computational analyses (biochemical amino acid properties, conservation, AlignGV GD, PolyPhen2, and SIFT) also suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. Th is variant has been identified in 0.1% (6/4376) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS/; dbSNP rs35548413); however, this frequency is not high enough to rule out a pathogenic role. In summary, the clinical significance of this var iant cannot be determined with certainty; however, based upon the functional dat a, we would lean towards a more likely pathogenic role. |
Counsyl | RCV000671555 | SCV000796542 | uncertain significance | Pendred syndrome | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556359 | SCV001777926 | uncertain significance | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect on the ion transport activity of pendrin(Dossena et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22116355, 22116359, 28941661) |
Genome- |
RCV001785461 | SCV002027025 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000671555 | SCV002027026 | uncertain significance | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671555 | SCV002080018 | uncertain significance | Pendred syndrome | 2020-02-19 | no assertion criteria provided | clinical testing |