ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.648+3G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003052813 SCV003446215 uncertain significance Multiple gastrointestinal atresias 2022-05-29 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. This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs765786418, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change falls in intron 4 of the TTC7A gene. It does not directly change the encoded amino acid sequence of the TTC7A protein. It affects a nucleotide within the consensus splice site.

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