ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.832+6A>G

dbSNP: rs200841589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554716 SCV000651838 uncertain significance Pitt-Hopkins-like syndrome 2 2024-01-24 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the NRXN1 gene. It does not directly change the encoded amino acid sequence of the NRXN1 protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NRXN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 472653). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001755883 SCV002005516 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing

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