ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3365-109721G>T

dbSNP: rs757004682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567802 SCV001791552 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis, which includes splice predictors and evolutionary conservation, supports that the missense change does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV004536199 SCV004113745 uncertain significance NRXN1-related disorder 2022-12-21 criteria provided, single submitter clinical testing The NRXN1 c.259G>T variant is predicted to result in the amino acid substitution p.Ala87Ser. This variant was reported in an individual with an unspecified neurodevelopmental disorder (Supplementary Table 5, Wang et al 2020. PubMed ID: 33004838). This variant is reported in 0.00090% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-50573829-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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