ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1957A>G (p.Thr653Ala)

gnomAD frequency: 0.00025  dbSNP: rs113303079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798880 SCV000938519 uncertain significance Multiple gastrointestinal atresias 2023-08-04 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TTC7A protein function. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 653 of the TTC7A protein (p.Thr653Ala). This variant is present in population databases (rs113303079, gnomAD 0.08%). 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: 644890).
Ambry Genetics RCV002537102 SCV003679928 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1957A>G (p.T653A) alteration is located in exon 17 (coding exon 17) of the TTC7A gene. This alteration results from a A to G substitution at nucleotide position 1957, causing the threonine (T) at amino acid position 653 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003141790 SCV003821657 uncertain significance Gastrointestinal defects and immunodeficiency syndrome 1 2023-01-25 criteria provided, single submitter clinical testing

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