ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.114+6G>C

gnomAD frequency: 0.00004  dbSNP: rs370326452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210669 SCV001382166 uncertain significance Bardet-Biedl syndrome 2023-08-14 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. 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. ClinVar contains an entry for this variant (Variation ID: 940976). This variant has not been reported in the literature in individuals affected with TTC8-related conditions. This variant is present in population databases (rs370326452, gnomAD 0.01%). This sequence change falls in intron 2 of the TTC8 gene. It does not directly change the encoded amino acid sequence of the TTC8 protein. It affects a nucleotide within the consensus splice site.
PreventionGenetics, part of Exact Sciences RCV003945921 SCV004760614 likely benign TTC8-related condition 2020-10-30 criteria provided, single submitter 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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