ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)

gnomAD frequency: 0.00018  dbSNP: rs144948296
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Group Niklas Dahl, Uppsala University 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, Mass General Brigham Personalized 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, M Health Fairview: University of Minnesota RCV000516500 SCV000891295 likely pathogenic Autosomal recessive nonsyndromic hearing loss 16 2017-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000516500 SCV002021976 pathogenic Autosomal recessive nonsyndromic hearing loss 16 2019-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000516500 SCV002763033 likely pathogenic Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing

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