Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Research Group Niklas Dahl, |
RCV000516500 | SCV000612161 | pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | 2017-12-11 | criteria provided, single submitter | research | We identified a family segregating a homozygous STRC stop variant [c.4027C>T, p.(Q1343*)] identified by exome sequencing in two siblings and their first cousin with childhood onset of episodic vertigo. |
Laboratory for Molecular Medicine, |
RCV000607785 | SCV000711203 | pathogenic | Rare genetic deafness | 2016-08-04 | criteria provided, single submitter | clinical testing | The p.Gln1343X variant in STRC has been identified in one individual with hearin g loss who was compound heterozygous for a second pathogenic STRC variant (Mande lker 2014). This nonsense variant leads to a premature termination codon at posi tion 1343 which is predicted to lead to a truncated or absent protein. Loss of f unction of the STRC gene is an established disease mechanism in autosomal recess ive nonsyndromic sensorineural hearing loss (SNHL). In summary, this variant me ets criteria to be classified as pathogenic for SNHL in an autosomal recessive m anner based on the predicted impact of the variant. |
Molecular Diagnostics Laboratory, |
RCV000516500 | SCV000891295 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | 2017-05-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000516500 | SCV002021976 | pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | 2019-11-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000516500 | SCV002763033 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 16 | criteria provided, single submitter | clinical testing |