ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2146C>A (p.Gln716Lys)

gnomAD frequency: 0.00003  dbSNP: rs312262737
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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 RCV000821731 SCV000962500 uncertain significance Hereditary spastic paraplegia 11 2021-12-29 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 716 of the SPG11 protein (p.Gln716Lys). This variant is present in population databases (rs312262737, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 663780). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003480872 SCV004227406 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing

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