Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222091 | SCV000272513 | uncertain significance | not specified | 2015-07-30 | criteria provided, single submitter | clinical testing | The p.Thr391Met variant in TMPRSS3 has not been previously reported in individua ls with hearing loss, but has been identified in 2/65994 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s145766262). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Thr39 1Met variant is uncertain. |
Fulgent Genetics, |
RCV002500717 | SCV002784995 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 8 | 2021-11-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002518210 | SCV003194869 | uncertain significance | not provided | 2022-07-22 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004020637 | SCV004967830 | uncertain significance | Inborn genetic diseases | 2021-09-27 | criteria provided, single submitter | clinical testing | The c.1172C>T (p.T391M) alteration is located in exon 11 (coding exon 10) of the TMPRSS3 gene. This alteration results from a C to T substitution at nucleotide position 1172, causing the threonine (T) at amino acid position 391 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |