ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.1798G>T (p.Ala600Ser) (rs796052770)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188253 SCV000241863 uncertain significance not provided 2012-12-31 criteria provided, single submitter clinical testing The Ala640Ser 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 Ala640Ser in approximately 6,400 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This amino acid substitution is non-conservative, as a non-polar Alanine residue is replaced by a polar Serine residue. It alters a highly conserved position in the third LNS domain of the NRXN1 protein. However, to our knowledge, missense mutations have not been previously reported near the Ala640 position. Some in silico models predict that Ala640Ser may be damaging to protein structure/function, while others suggest it it likely benign.Therefore, based on the currently available information, it is unclear whether Ala640Ser is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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