ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) (rs199784139)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000513409 SCV000241886 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the NRXN1 gene. The H885Y variant has been reported in a proband with autism spectrum disorder, his brother with learning disabilities, and their unaffected father; none had any known history of epilepsy (Jiang et al., 2013). The H885Y variant is observed in 132/125914 (0.10%) alleles from individuals of European background in large population cohorts (Lek et al., 2016). The H885Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000465496 SCV000552204 likely benign Pitt-Hopkins-like syndrome 2 2019-12-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000188275 SCV000596082 uncertain significance not specified 2015-09-22 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513409 SCV000608937 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513409 SCV000704629 uncertain significance not provided 2016-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716693 SCV000847536 uncertain significance History of neurodevelopmental disorder 2019-03-28 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000764442 SCV000895499 uncertain significance Pitt-Hopkins-like syndrome 2; Schizophrenia 17 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000465496 SCV001302024 uncertain significance Pitt-Hopkins-like syndrome 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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