ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1190T>A (p.Val397Asp)

gnomAD frequency: 0.00001  dbSNP: rs374669143
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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 RCV001314790 SCV001505338 uncertain significance Multiple gastrointestinal atresias 2020-03-08 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 397 of the TTC7A protein (p.Val397Asp). The valine residue is weakly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs374669143, ExAC 0.1%). 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 RCV004034326 SCV004974410 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.1190T>A (p.V397D) alteration is located in exon 9 (coding exon 9) of the TTC7A gene. This alteration results from a T to A substitution at nucleotide position 1190, causing the valine (V) at amino acid position 397 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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