ClinVar Miner

Submissions for variant NM_001042537.1(SLC9A6):c.526-9_526-5del (rs796053290)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory,Strasbourg University Hospital RCV000224024 SCV000281729 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000189417 SCV000243056 uncertain significance not specified 2015-05-13 criteria provided, single submitter clinical testing The c.430-(9_5)delTTTTA variant has been previously reported (using alternative nomenclature of c.526-9_526-5delTTTTA), as a maternally inherited variant in an male patient (Redin et al., 2014). Several in-silico splice prediction models predict that c.430-(9_5)delTTTTA may damage or even destroy the natural splice acceptor site in intron 2, which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000240849 SCV000597126 likely pathogenic Christianson syndrome 2016-01-27 criteria provided, single submitter clinical testing
OMIM RCV000240849 SCV000299334 pathogenic Christianson syndrome 2016-09-15 no assertion criteria provided literature only

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