ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.826A>T (p.Thr276Ser)

gnomAD frequency: 0.00011  dbSNP: rs373538285
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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 RCV001343617 SCV001537615 uncertain significance Multiple gastrointestinal atresias 2020-06-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 276 of the TTC7A protein (p.Thr276Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTC7A-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002546992 SCV003700011 uncertain significance Inborn genetic diseases 2024-04-18 criteria provided, single submitter clinical testing The c.826A>T (p.T276S) alteration is located in exon 6 (coding exon 6) of the TTC7A gene. This alteration results from a A to T substitution at nucleotide position 826, causing the threonine (T) at amino acid position 276 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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