ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2426A>G (p.Gln809Arg)

gnomAD frequency: 0.00001  dbSNP: rs1406499363
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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 RCV001372118 SCV001568719 uncertain significance Multiple gastrointestinal atresias 2022-08-09 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1062406). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 809 of the TTC7A protein (p.Gln809Arg).
Ambry Genetics RCV003169911 SCV003890882 uncertain significance Inborn genetic diseases 2023-01-25 criteria provided, single submitter clinical testing The c.2426A>G (p.Q809R) alteration is located in exon 20 (coding exon 20) of the TTC7A gene. This alteration results from a A to G substitution at nucleotide position 2426, causing the glutamine (Q) at amino acid position 809 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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