ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4204C>A (p.His1402Asn)

dbSNP: rs756973532
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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 RCV001884216 SCV002153921 uncertain significance Hereditary spastic paraplegia 11 2022-09-29 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1402 of the SPG11 protein (p.His1402Asn). This variant is present in population databases (rs756973532, gnomAD 0.05%). 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: 1387758). 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 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.
Ambry Genetics RCV004039044 SCV004955043 uncertain significance Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing The c.4204C>A (p.H1402N) alteration is located in exon 25 (coding exon 25) of the SPG11 gene. This alteration results from a C to A substitution at nucleotide position 4204, causing the histidine (H) at amino acid position 1402 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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