Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604175 | SCV000712640 | pathogenic | Rare genetic deafness | 2016-11-03 | criteria provided, single submitter | clinical testing | The c.4219-1G>A variant in STRC has not been previously reported in individuals with hearing loss but was identified in 3/49276 European chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs74885459 2). However, this frequency is low enough to be consistent with a recessive carr ier frequency. This variant occurs in the invariant region (+/- 1/2) of the spli ce consensus sequence and is predicted to cause altered splicing leading to an a bnormal or absent protein. Loss of function of the STRC gene is an established d isease mechanism in autosomal recessive nonsyndromic hearing loss. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessi ve hearing loss based on the predicted impact of the variant. |
Fulgent Genetics, |
RCV000763351 | SCV000894041 | likely pathogenic | Deafness-infertility syndrome; Autosomal recessive nonsyndromic hearing loss 16; Spermatogenic failure 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002467922 | SCV002762977 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | criteria provided, single submitter | clinical testing | ||
Mayo Clinic Laboratories, |
RCV003480711 | SCV004225750 | likely pathogenic | not provided | 2022-05-31 | criteria provided, single submitter | clinical testing | PM2, PVS1 |