ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.248C>A (p.Ala83Asp)

gnomAD frequency: 0.00012  dbSNP: rs145327046
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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 RCV001241903 SCV001414957 uncertain significance Multiple gastrointestinal atresias 2024-09-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 83 of the TTC7A protein (p.Ala83Asp). This variant is present in population databases (rs145327046, gnomAD 0.02%). 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: 967082). 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 RCV002564010 SCV003556434 uncertain significance Inborn genetic diseases 2022-06-27 criteria provided, single submitter clinical testing The c.248C>A (p.A83D) alteration is located in exon 2 (coding exon 2) of the TTC7A gene. This alteration results from a C to A substitution at nucleotide position 248, causing the alanine (A) at amino acid position 83 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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