ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.1068T>A (p.Asn356Lys)

dbSNP: rs1595621335
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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 RCV000793809 SCV000933183 likely pathogenic Hereditary spastic paraplegia 3A 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 356 of the ATL1 protein (p.Asn356Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with spastic paraparesis (Invitae). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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