ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2408G>A (p.Arg803His)

gnomAD frequency: 0.00003  dbSNP: rs146165942
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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 RCV001225904 SCV001398198 uncertain significance Multiple gastrointestinal atresias 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 803 of the TTC7A protein (p.Arg803His). This variant is present in population databases (rs146165942, 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: 953590). 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: "Deleterious"; PolyPhen-2: "Probably 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 RCV002563089 SCV003605074 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.2408G>A (p.R803H) alteration is located in exon 20 (coding exon 20) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 2408, causing the arginine (R) at amino acid position 803 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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