ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2184G>C (p.Leu728Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002425462 SCV002729386 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2184G>C (p.L728F) alteration is located in exon 11 (coding exon 11) of the SPG11 gene. This alteration results from a G to C substitution at nucleotide position 2184, causing the leucine (L) at amino acid position 728 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098696 SCV003474405 uncertain significance Hereditary spastic paraplegia 11 2022-06-16 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 728 of the SPG11 protein (p.Leu728Phe).

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