ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.290C>T (p.Pro97Leu)

gnomAD frequency: 0.00004  dbSNP: rs145350780
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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 RCV001061784 SCV001226541 uncertain significance Multiple gastrointestinal atresias 2022-02-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 97 of the TTC7A protein (p.Pro97Leu). This variant is present in population databases (rs145350780, gnomAD 0.02%). 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: 856342). 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. 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 RCV003363091 SCV004072695 uncertain significance Inborn genetic diseases 2023-06-29 criteria provided, single submitter clinical testing The c.290C>T (p.P97L) alteration is located in exon 2 (coding exon 2) of the TTC7A gene. This alteration results from a C to T substitution at nucleotide position 290, causing the proline (P) at amino acid position 97 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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