ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1202C>T (p.Thr401Met) (rs796052764)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188244 SCV000241853 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing The Thr441Met missense change has not been published as a mutation, nor as it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Thr441Met in approximately 5,800 individuals of European or African American ancestry, indicating that it not a common benign variant in these populations. Thr441Met is a non-conservative amino acid substitution as a polar Threonine residue is replaced by a non-polar Methionine residue. It alters a position in the second LNS domain of the NRXN1 protein that is highly conserved across species and in related proteins. To our knowledge, missense mutations have not been previously reported near the Thr441Met position. Some in silico models predict that Thr441Met may be damaging to protein structure and/or function, although others suggest that it is likely benign. Therefore, based on the available information, it is unknown whether Thr441Met is a disease-causing mutation or a rare benign variant.The variant is found in INFANT-EPI panel(s).

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