Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000519748 | SCV000618240 | uncertain significance | not provided | 2025-01-07 | criteria provided, single submitter | clinical testing | Identified in a patient with sensorineural hearing loss in published literature, however, a second ESPN variant was not identified (PMID: 30622556); 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: 17667943, 30622556) |
| Fulgent Genetics, |
RCV000764073 | SCV000895027 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 36 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000764073 | SCV001157916 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 36 | 2018-12-19 | criteria provided, single submitter | clinical testing | The ESPN c.935C>T; p.Ser312Leu variant (rs189442618), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 449818). This variant is found in the non-Finnish European population with an overall allele frequency of 0.02% (27/121080 alleles) in the Genome Aggregation Database. The serine at codon 312 is weakly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. However, given the lack of clinical and functional data, the significance of the p.Ser312Leu variant is uncertain at this time. |
| Labcorp Genetics |
RCV000519748 | SCV004282555 | uncertain significance | not provided | 2023-09-25 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 449818). This missense change has been observed in individual(s) with deafness (PMID: 30622556). This variant is present in population databases (rs189442618, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 312 of the ESPN protein (p.Ser312Leu). |
| Institute of Human Genetics, |
RCV004817755 | SCV005071552 | uncertain significance | Retinal dystrophy | 2022-01-01 | criteria provided, single submitter | clinical testing |