ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)

gnomAD frequency: 0.00004  dbSNP: rs367744328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391467 SCV001451314 uncertain significance Spastic paraplegia criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001340701 SCV001534526 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-10-13 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 918 of the WASHC5 protein (p.Pro918Ser). This variant is present in population databases (rs367744328, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 989076). 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 WASHC5 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.
Athena Diagnostics RCV002473252 SCV002771019 uncertain significance not provided 2021-10-29 criteria provided, single submitter clinical testing
GeneDx RCV002473252 SCV005627013 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing Observed in patient with hereditary spastic paraplegia in published literature; however, additional clinical information was not provided (PMID: 34983064); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34983064)

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