ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1026C>G (p.Ile342Met)

dbSNP: rs151317740
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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 RCV000633667 SCV000754928 uncertain significance Multiple gastrointestinal atresias 2025-01-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 342 of the TTC7A protein (p.Ile342Met). This variant is present in population databases (rs151317740, gnomAD 0.06%). 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: 528462). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TTC7A protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002528863 SCV003662577 uncertain significance Inborn genetic diseases 2024-01-31 criteria provided, single submitter clinical testing The c.1026C>G (p.I342M) alteration is located in exon 8 (coding exon 8) of the TTC7A gene. This alteration results from a C to G substitution at nucleotide position 1026, causing the isoleucine (I) at amino acid position 342 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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