ClinVar Miner

Submissions for variant NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val)

gnomAD frequency: 0.00011  dbSNP: rs199930373
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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 RCV000227335 SCV000290010 uncertain significance Hereditary spastic paraplegia 48 2024-12-31 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 335 of the AP5Z1 protein (p.Leu335Val). This variant is present in population databases (rs199930373, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with AP5Z1-related conditions. ClinVar contains an entry for this variant (Variation ID: 240931). 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 AP5Z1 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.
Athena Diagnostics RCV000991537 SCV001143043 uncertain significance not provided 2018-08-24 criteria provided, single submitter clinical testing

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