ClinVar Miner

Submissions for variant NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003074856 SCV003460678 uncertain significance Hereditary spastic paraplegia 47 2022-10-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs774630556, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 174 of the AP4B1 protein (p.Ile174Thr). This variant has not been reported in the literature in individuals affected with AP4B1-related conditions. 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 not expected to disrupt AP4B1 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.

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