ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1412G>A (p.Gly471Asp)

dbSNP: rs1553318274
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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 RCV000526604 SCV000645346 pathogenic Hereditary spastic paraplegia 4 2017-06-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 471 of the SPAST protein (p.Gly471Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been shown to arise de novo and segregate with disease in a family affected with hereditary spastic paraplegia (HSP) (PMID: 17560499). It has also been reported in an unrelated individual affected with HSP (PMID: 26671083). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). For these reasons, this variant has been classified as Pathogenic.

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