Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039355 | SCV000063039 | uncertain significance | not specified | 2016-02-02 | criteria provided, single submitter | clinical testing | The p.Ala138Thr variant in TMPRSS3 has now been identified by our laboratory in three individuals with hearing loss, but a variant affecting the remaining copy of the TMPRSS3 gene has not been identified in any of them. This variant has bee n identified in 0.06% (71/121400) of chromosomes by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs140614903); however, its fre quency is not high enough to rule out a pathogenic role. This variant occurs at the same position as a different amino acid change, p.Ala138Glu, reported in a h omozygous state in an affected sib-pair (Hutchin 2005) and identified by our lab oratory in four individuals, three of whom have a second pathogenic or likely pa thogenic variant. This increases the likelihood of pathogenicity for the p.Ala13 8Thr variant. However, the alanine to threonine change is a more conservative ch ange than alanine to glutamic acid. Computational prediction tools and conservat ion analyses do not provide strong support for or against an impact to the prote in. In summary, the clinical significance of the p.Ala138Thr variant is uncertai n. |
Eurofins Ntd Llc |
RCV000730846 | SCV000858611 | uncertain significance | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Knight Diagnostic Laboratories, |
RCV000730846 | SCV001448956 | uncertain significance | not provided | 2019-10-16 | criteria provided, single submitter | clinical testing | |
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375064 | SCV001571833 | uncertain significance | Waardenburg syndrome | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Moderate, PM5_Moderate, BP4_Supporting |
Labcorp Genetics |
RCV000730846 | SCV002246809 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000730846 | SCV002563696 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing |