ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.1693C>T (p.Pro565Ser)

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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 RCV002966865 SCV003283453 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 565 of the TONSL protein (p.Pro565Ser). This variant is present in population databases (rs147880958, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with TONSL-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 expected to disrupt TONSL 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.
Ambry Genetics RCV004681578 SCV005177770 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.1693C>T (p.P565S) alteration is located in exon 14 (coding exon 14) of the TONSL gene. This alteration results from a C to T substitution at nucleotide position 1693, causing the proline (P) at amino acid position 565 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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