ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.295A>G (p.Met99Val)

dbSNP: rs748068913
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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 RCV003095872 SCV003327760 uncertain significance Multiple gastrointestinal atresias 2022-10-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs748068913, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 99 of the TTC7A protein (p.Met99Val). This missense change has been observed in individual(s) with TTC7A-related conditions (PMID: 35627206). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TTC7A protein function. ClinVar contains an entry for this variant (Variation ID: 1693515).
OMIM RCV002260917 SCV002540615 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2022-07-01 no assertion criteria provided literature only

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