ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.562C>T (p.Arg188Cys)

gnomAD frequency: 0.00006  dbSNP: rs544316606
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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 RCV001218690 SCV001390585 uncertain significance Multiple gastrointestinal atresias 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 188 of the TTC7A protein (p.Arg188Cys). This variant is present in population databases (rs544316606, gnomAD 0.01%). 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: 947583). 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 expected to disrupt TTC7A protein function. 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 RCV004032336 SCV004974429 uncertain significance Inborn genetic diseases 2023-12-09 criteria provided, single submitter clinical testing The c.562C>T (p.R188C) alteration is located in exon 4 (coding exon 4) of the TTC7A gene. This alteration results from a C to T substitution at nucleotide position 562, causing the arginine (R) at amino acid position 188 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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