ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6912T>G (p.Phe2304Leu)

dbSNP: rs146914461
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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 RCV001937478 SCV002133558 uncertain significance Hereditary spastic paraplegia 11 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2304 of the SPG11 protein (p.Phe2304Leu). This variant is present in population databases (rs146914461, gnomAD 0.007%). 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: 1364563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPG11 protein function. 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.
CeGaT Center for Human Genetics Tuebingen RCV003401794 SCV004136516 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing SPG11: PM2, BP1

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