ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) (rs765468645)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000613872 SCV000713496 likely pathogenic Meckel-Gruber syndrome 2018-01-31 criteria provided, single submitter clinical testing The p.Arg91X (NM_001142301.1 c.271C>T) (also described as NM_153704.5:c.514C>T p .Arg172X) variant in TMEM67 has been reported in 1 compound heterozygous individ ual with Meckel syndrome (Matson 2016). It has been identified in 1/24020 Africa n chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.o rg; rs765468645). This nonsense variant leads to a premature termination codon a t position 91, which is predicted to lead to a truncated or absent protein. Bial lelic loss of function of the TMEM67 gene is an established disease mechanism in Meckel syndrome. This alteration is then predicted to lead to a truncated or ab sent protein. In summary, although additional studies are required to fully esta blish its clinical significance, the p.Arg91X variant is likely pathogenic for M eckel syndrome in an autosomal recessive manner based on a predicted variant eff ect and its occurrence in an affected individual.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000627005 SCV000747708 pathogenic Iris coloboma; Nystagmus; Generalized hypotonia; Cerebellar vermis hypoplasia 2017-01-01 criteria provided, single submitter clinical testing

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