ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.806G>A (p.Arg269Gln)

gnomAD frequency: 0.00009  dbSNP: rs200332198
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217515 SCV001389358 uncertain significance Multiple gastrointestinal atresias 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 269 of the TTC7A protein (p.Arg269Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs200332198, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002562435 SCV003578121 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.806G>A (p.R269Q) alteration is located in exon 6 (coding exon 6) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 806, causing the arginine (R) at amino acid position 269 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529994 SCV001744443 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529994 SCV001974780 uncertain significance not provided no assertion criteria provided clinical testing

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