Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154358 | SCV000204021 | uncertain significance | not specified | 2015-09-03 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ser3609Ile va riant in USH2A has been identified by our laboratory in 1 Latino individual with hearing loss and in 6/1154 Latino chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs727504307). The Serine (Ser) a t position 3609 is not conserved in mammals or evolutionary distant species, and 2 mammals (horse and platypus) carry an isoleucine (Ile) at this position, rais ing the possibility that this change may be tolerated. Additional computational prediction tools suggest that the p.Ser3609Ile variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the p.Ser3609Ile variant is uncert ain, these data suggest that it is more likely to be benign. |
Eurofins Ntd Llc |
RCV000732182 | SCV000860102 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732182 | SCV001686210 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732182 | SCV004023461 | uncertain significance | not provided | 2023-06-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001273696 | SCV001457062 | uncertain significance | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |