ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.840-12T>A

gnomAD frequency: 0.00006  dbSNP: rs747803201
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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 RCV001905019 SCV002134665 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1363651). This variant has not been reported in the literature in individuals affected with RINT1-related conditions. This variant is present in population databases (rs747803201, gnomAD 0.02%). This sequence change falls in intron 6 of the RINT1 gene. It does not directly change the encoded amino acid sequence of the RINT1 protein.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989722 SCV004807681 uncertain significance Infantile liver failure syndrome 3 2024-03-29 criteria provided, single submitter clinical testing

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