ClinVar Miner

Submissions for variant NM_015602.4(TOR1AIP1):c.838+3A>G

gnomAD frequency: 0.00015  dbSNP: rs139072070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808200 SCV000948296 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2022-08-09 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the TOR1AIP1 gene. It does not directly change the encoded amino acid sequence of the TOR1AIP1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs139072070, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TOR1AIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 652615). 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 RCV001655601 SCV001871186 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 33820833)
Genome-Nilou Lab RCV000808200 SCV004172378 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Y 2023-04-11 criteria provided, single submitter clinical testing

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