ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3426+6T>A

gnomAD frequency: 0.00001  dbSNP: rs1267329906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001966507 SCV002255756 uncertain significance Familial aplasia of the vermis 2021-10-31 criteria provided, single submitter clinical testing This sequence change falls in intron 25 of the AHI1 gene. It does not directly change the encoded amino acid sequence of the AHI1 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 AHI1-related conditions. 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.
Fulgent Genetics, Fulgent Genetics RCV002479607 SCV002789860 uncertain significance Joubert syndrome 3 2022-05-11 criteria provided, single submitter clinical testing

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