ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1540T>G (p.Leu514Val)

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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 RCV005224674 SCV005869477 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-12-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 514 of the WASHC5 protein (p.Leu514Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt WASHC5 protein function with a negative predictive value of 80%. 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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