ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1170C>T (p.Gly390=) (rs761632870)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217574 SCV000279441 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing The c.1170 C>T variant has not been published as a pathogenic variant, nor has it been reported asa benign variant to our knowledge. The c.1170 C>T variant was not observed in approximately6,100 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. Several in-silico spliceprediction models predict that c.1170 C>T creates a cryptic donor site which may supplant thenatural donor/acceptor site and lead to abnormal gene splicing. However, in the absence ofRNA/functional studies, the actual effect of this sequence change in this individual is unknown.
Ambry Genetics RCV000719498 SCV000850365 likely benign History of neurodevelopmental disorder 2017-01-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Fulgent Genetics,Fulgent Genetics RCV000764873 SCV000896029 uncertain significance Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked; Corpus callosum agenesis-abnormal genitalia syndrome; Lissencephaly 2, X-linked; Partington syndrome 2018-10-31 criteria provided, single submitter clinical testing

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