ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1509C>T (p.Asp503=)

gnomAD frequency: 0.00004  dbSNP: rs753851181
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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 RCV000807909 SCV000947989 uncertain significance Multiple gastrointestinal atresias 2022-10-13 criteria provided, single submitter clinical testing This sequence change affects codon 503 of the TTC7A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TTC7A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs753851181, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 652370). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693329 SCV005187664 uncertain significance not provided criteria provided, single submitter not provided

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