ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.347G>C (p.Ser116Thr)

gnomAD frequency: 0.00002  dbSNP: rs751348647
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002317965 SCV000849501 uncertain significance Inborn genetic diseases 2020-02-03 criteria provided, single submitter clinical testing The p.S116T variant (also known as c.347G>C), located in coding exon 1 of the NRXN1 gene, results from a G to C substitution at nucleotide position 347. The serine at codon 116 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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