ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter)

gnomAD frequency: 0.00007  dbSNP: rs727503444
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151954 SCV000200487 pathogenic Rare genetic deafness 2014-11-28 criteria provided, single submitter clinical testing The p.Arg1224X variant in STRC has been previously identified by our laboratory in 2 Caucasian individuals with hearing loss, both of whom carried a second path ogenic variant in STRC on the other allele. It was absent from large population studies. This nonsense variant leads to a premature termination codon at positio n 1224, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for hearing loss in an autosomal recessive manner based on its predicted impact to the protein.
GeneDx RCV001797057 SCV002039031 pathogenic not provided 2021-12-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21078986, 22147502, 31216405, 29339441)
Genome-Nilou Lab RCV002467599 SCV002763066 pathogenic Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498708 SCV002813924 pathogenic Deafness-infertility syndrome; Autosomal recessive nonsyndromic hearing loss 16; Spermatogenic failure 7 2022-03-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748602 SCV005347836 pathogenic STRC-related disorder 2024-09-19 no assertion criteria provided clinical testing The STRC c.3670C>T variant is predicted to result in premature protein termination (p.Arg1224*). This variant was reported in the homozygous or compound heterozygous state with another STRC pathogenic variant in multiple individuals with autosomal recessive hearing loss (Table S1, Liu et al. 2019. PubMed ID: 31216405; Nishio et al. 2022. PubMed ID: 35022556; Amr et al. 2018. PubMed ID: 29339441; https://www.ncbi.nlm.nih.gov/clinvar/variation/165315/). This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD. Nonsense variants in STRC are expected to be pathogenic. This variant is interpreted as pathogenic.

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