Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169009 | SCV000220149 | likely pathogenic | Pendred syndrome | 2014-03-06 | criteria provided, single submitter | literature only | |
ARUP Laboratories, |
RCV000507613 | SCV000605148 | pathogenic | not specified | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001069158 | SCV001234307 | pathogenic | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser93Argfs*4) in the SLC26A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC26A4 are known to be pathogenic (PMID: 16283880, 25394566, 26252218, 26445815). This variant is present in population databases (rs786204421, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with Pendred syndrome (PMID: 9920104, 11716048, 23273637). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 188715). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000169009 | SCV002026575 | pathogenic | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001069158 | SCV002044073 | pathogenic | not provided | 2021-12-22 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11317356, 11716048, 23273637, 18285825, 14679580, 17940114, 31589614, 9920104, 26752218) |
Baylor Genetics | RCV003474895 | SCV004201898 | pathogenic | Autosomal recessive nonsyndromic hearing loss 4 | 2023-08-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000169009 | SCV000025274 | pathogenic | Pendred syndrome | 2008-01-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000169009 | SCV002079966 | pathogenic | Pendred syndrome | 2021-05-23 | no assertion criteria provided | clinical testing |