ClinVar Miner

Submissions for variant NM_006757.4(TNNT3):c.722+3G>A

gnomAD frequency: 0.00001  dbSNP: rs771716631
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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 RCV001943694 SCV002194920 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1421012). 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. 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. This variant has not been reported in the literature in individuals affected with TNNT3-related conditions. This variant is present in population databases (rs771716631, gnomAD 0.03%). This sequence change falls in intron 15 of the TNNT3 gene. It does not directly change the encoded amino acid sequence of the TNNT3 protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003911102 SCV004725588 likely benign TNNT3-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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