ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.4202G>A (p.Ser1401Asn) (rs796052762)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188241 SCV000241850 uncertain significance not provided 2012-10-10 criteria provided, single submitter clinical testing The Ser1441Asn 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 Ser1441Asn in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Ser1441Asn alters a highly conserved position in the C-terminal region of the protein. However, the amino acid substitution is conservative, as Serine and Asparagine are both uncharged, polar amino acids, and multiple in silico algorithms predict it may be benign. Therefore, based on the currently available information, it is unclear whether Ser1441Asn is a disease-causing mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).

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