ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1189G>A (p.Val397Ile)

gnomAD frequency: 0.00011  dbSNP: rs146284515
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694371 SCV000822813 uncertain significance Multiple gastrointestinal atresias 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 397 of the TTC7A protein (p.Val397Ile). This variant is present in population databases (rs146284515, gnomAD 0.1%). 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: 572873). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TTC7A protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV000694371 SCV001520480 uncertain significance Multiple gastrointestinal atresias 2019-06-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001509147 SCV001715704 uncertain significance not provided 2019-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025192 SCV004974409 uncertain significance Inborn genetic diseases 2022-03-31 criteria provided, single submitter clinical testing The c.1189G>A (p.V397I) alteration is located in exon 9 (coding exon 9) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 1189, causing the valine (V) at amino acid position 397 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV004723087 SCV005328678 likely benign Gastrointestinal defects and immunodeficiency syndrome 1 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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