ClinVar Miner

Submissions for variant NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) (rs765379963)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735317 SCV000854471 pathogenic Autistic disorder of childhood onset; Cryptorchidism; Pulmonic stenosis (disease); Sensorineural hearing loss; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormality of the sternum; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severe visual impairment; Relative macrocephaly; Bilateral cleft lip; Cleft palate criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001030791 SCV001448428 pathogenic Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2020-11-09 criteria provided, single submitter clinical testing Variant summary: TMCO1 c.616C>T (p.Arg206X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251388 control chromosomes (gnomAD). c.616C>T has been reported in the literature in multiple homozygous individuals affected with Craniofacial Dysmorphism, Skeletal Anomalies, and Intellectual Disability Syndrome (e.g. Ji_2019, Sharkia_2019). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Section for Clinical Neurogenetics,University of Tübingen RCV001030791 SCV001156109 likely pathogenic Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2019-08-01 no assertion criteria provided research
OMIM RCV001030791 SCV001431260 pathogenic Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 2020-09-08 no assertion criteria provided literature only

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