ClinVar Miner

Submissions for variant NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) (rs74315329)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000369379 SCV000351279 likely pathogenic Primary open angle glaucoma 2016-06-14 criteria provided, single submitter clinical testing The c.1102C>T (p.Gln368Ter) variant is a stop-gained variant. Across a selection of the available literature, the p.Gln368Ter variant has been identified in a heterozygous state in 107 patients affected with primary open angle glaucoma (POAG) or ocular hypertension (Stone et al. 1997; Angius et al. 2000; Craig et al. 2001; Mataftsi et al. 2001; Cobb et al. 2002; Faucher et al. 2002; Melki et al. 2003; Bhattacharjee et al. 2007; Lopez-Martinez et al. 2007; Hogewind et al. 2010; Liu et al. 2012; Young et al. 2012). The p.Gln368Ter variant was also reported in a heterozygous state in 56 controls and unaffected family members and is reported at a frequency of 0.00363 in the European (Finnish) population of the Exome Aggregation Consortium. The relatively high number of unaffected individuals carrying the variant could be consistent with reduced or age-related penetrance. This variant may represent a risk allele for development of POAG. In vitro functional studies by Aroca-Aquilar et al. (2008) showed that heterozygous expression of the p.Gln368Ter variant increases secretion of the variant protein and reduces extracellular processed myocilin, while Qiu et al. (2014) demonstrated that p.Gln368Ter variant myocilin results in compromised ubiquitin-proteasome function and induced autophagy. Based on the evidence, the p.Gln368Ter variant is classified as likely pathogenic and possible risk allele for primary open angle glaucoma.
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735309 SCV000854462 likely pathogenic Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Congenital combined immunodeficiency criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199036 SCV001370031 likely pathogenic Nystagmus; Myopia (disease); Nyctalopia 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. This variant was detected in homozygous state.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200372 SCV001371312 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
OMIM RCV000008412 SCV000028620 pathogenic Glaucoma 1, open angle, A 2003-02-01 no assertion criteria provided literature only

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