ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.1213G>A (p.Val405Met)

gnomAD frequency: 0.00007  dbSNP: rs201240362
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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 RCV000530204 SCV000649534 uncertain significance Hereditary spastic paraplegia 3A 2024-09-11 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 405 of the ATL1 protein (p.Val405Met). This variant is present in population databases (rs201240362, gnomAD 0.008%). This missense change has been observed in individual(s) with autosomal dominant hereditary spastic paraplegia (PMID: 31594988). ClinVar contains an entry for this variant (Variation ID: 471245). 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 ATL1 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.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV004767372 SCV005380287 uncertain significance not provided criteria provided, single submitter not provided

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