ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.293A>G (p.Asp98Gly)

dbSNP: rs2039150193
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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 RCV001068936 SCV001234073 uncertain significance Hereditary spastic paraplegia 3A 2019-02-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 98 of the ATL1 protein (p.Asp98Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATL1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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