ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)

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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 RCV002652240 SCV003529179 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.2365G>C (p.E789Q) alteration is located in exon 17 (coding exon 17) of the SPG7 gene. This alteration results from a G to C substitution at nucleotide position 2365, causing the glutamic acid (E) at amino acid position 789 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003507467 SCV004274330 uncertain significance Hereditary spastic paraplegia 7 2023-03-11 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. 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 SPG7 protein function. ClinVar contains an entry for this variant (Variation ID: 2206225). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is present in population databases (rs372033226, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 789 of the SPG7 protein (p.Glu789Gln).

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