ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3502A>G (p.Asn1168Asp)

dbSNP: rs763749443
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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 RCV000689429 SCV000817079 uncertain significance Hereditary spastic paraplegia 11 2020-03-12 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SPG11-related disease. This variant is present in population databases (rs763749443, ExAC 0.002%). This sequence change replaces asparagine with aspartic acid at codon 1168 of the SPG11 protein (p.Asn1168Asp). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and aspartic acid.

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