ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3189G>A (p.Pro1063=)

gnomAD frequency: 0.00006  dbSNP: rs141566634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058065 SCV001222604 likely benign Pitt-Hopkins-like syndrome 2 2023-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003393824 SCV004121250 uncertain significance NRXN1-related condition 2023-04-26 criteria provided, single submitter clinical testing The NRXN1 c.3309G>A variant is not predicted to result in an amino acid change (p.=). which is predicted to create a new splice site (Alamut Visual Plus v.1.6.1). However, computer predictions are not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-50699491-C-T). 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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