ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) (rs200915287)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188300 SCV000241911 uncertain significance not provided 2017-12-14 criteria provided, single submitter clinical testing The His1221Arg missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Arg292His in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This amino acid substitution is conservative, as Histidine and Arginine are both positively charged amino acids. It alters a highly conserved position in the sixth laminin G-like domain of the protein, and multiple in silico algorithms predict His1221Arg may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether His1221Arg is a disease-causing mutation or a rare benignvariant. The variant is found in EPILEPSY panel(s).
Fulgent Genetics,Fulgent Genetics RCV000764439 SCV000895496 uncertain significance Pitt-Hopkins-like syndrome 2; Schizophrenia 17 2018-10-31 criteria provided, single submitter clinical testing

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