ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.2589+6G>T

gnomAD frequency: 0.00003  dbSNP: rs200395927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001508290 SCV000530328 likely benign not provided 2018-10-11 criteria provided, single submitter clinical testing
Invitae RCV001046024 SCV001209906 uncertain significance Intellectual disability, autosomal dominant 8 2023-08-10 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the GRIN1 gene. It does not directly change the encoded amino acid sequence of the GRIN1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs200395927, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GRIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 388106). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508290 SCV001714344 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing

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