ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1444A>T (p.Ile482Phe) (rs796052767)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188247 SCV000241857 uncertain significance not provided 2013-05-30 criteria provided, single submitter clinical testing The Ile522Phe 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 Ile522Phe in approximately 6,000 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 Isoleucine and Phenylalanine are both uncharged, non-polar amino acids. It alters a position in the third laminin G-like domain of the protein that is conserved through mammals but is not conserved in distant species, and missense mutations have not been reported in this region of the protein in association with epilepsy. Some in silico algorithms predict Ile522Phe may be damaging to protein structure/function, while another model suggests it may be benign. Therefore, based on the currently available information, it is unclear whether Ile522Phe is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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