Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213346 | SCV000272574 | uncertain significance | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | The p.Ala140Asp variant in TSPEAR has not been previously reported in individual s with hearing loss, but has been identified in 8/9402 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s147904376). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predi ction tools and conservation analysis suggest that the p.Ala140Asp variant may n ot impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ala140Asp vari ant is uncertain. |
Eurofins Ntd Llc |
RCV000733590 | SCV000861672 | uncertain significance | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000733590 | SCV004313565 | likely benign | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004020641 | SCV004974258 | uncertain significance | Inborn genetic diseases | 2024-01-09 | criteria provided, single submitter | clinical testing | The c.419C>A (p.A140D) alteration is located in exon 3 (coding exon 3) of the TSPEAR gene. This alteration results from a C to A substitution at nucleotide position 419, causing the alanine (A) at amino acid position 140 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |