ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.268T>C (p.Tyr90His)

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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 RCV002659245 SCV002985511 uncertain significance Hereditary spastic paraplegia 3A 2023-01-18 criteria provided, single submitter clinical testing 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. 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 ATL1 protein function. This variant has not been reported in the literature in individuals affected with ATL1-related conditions. This variant is present in population databases (rs767543400, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 90 of the ATL1 protein (p.Tyr90His).
GeneDx RCV003151902 SCV003840430 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23334294)

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