Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000039212 | SCV000062896 | uncertain significance | not specified | 2011-10-24 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Arg1804Trp vari ant in CDH23 has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, hom ology, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. However, another amino acid change at this position (Arg1804Gln) is a common benign variant with a frequency of 3.4%-31.1% in various racial grou ps (dbSNP rs3802711). It should be noted that this lab has only sequenced CDH23 in 16 black probands and no black healthy controls. In addition, healthy control information is limited in either public databases or scientific literature, suc h that the full spectrum of benign variation has not yet been defined for this p opulation. Future analysis could reveal that the Arg1804Trp variant is common in this population and therefore unlikely to be pathogenic. In summary, the clinic al significance of this variant cannot be determined with certainty at this time ; however based upon the arguments described above, we would lean towards a more likely benign role. |
| Fulgent Genetics, |
RCV000764919 | SCV000896082 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000882752 | SCV001026010 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000882752 | SCV001784243 | uncertain significance | not provided | 2023-09-15 | 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, |
RCV001273560 | SCV001456697 | uncertain significance | Usher syndrome type 1 | 2020-04-16 | no assertion criteria provided | clinical testing |