ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.979C>A (p.Pro327Thr)

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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 RCV003086392 SCV003482503 uncertain significance Multiple gastrointestinal atresias 2022-03-05 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. 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. This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs757012029, gnomAD 0.04%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 327 of the TTC7A protein (p.Pro327Thr).
Ambry Genetics RCV003086391 SCV003579054 uncertain significance Inborn genetic diseases 2021-09-09 criteria provided, single submitter clinical testing The c.979C>A (p.P327T) alteration is located in exon 7 (coding exon 7) of the TTC7A gene. This alteration results from a C to A substitution at nucleotide position 979, causing the proline (P) at amino acid position 327 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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