ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile)

gnomAD frequency: 0.00001  dbSNP: rs371504521
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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 RCV001955194 SCV002213785 uncertain significance Hereditary spastic paraplegia 7 2023-07-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs371504521, gnomAD 0.007%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 419 of the SPG7 protein (p.Thr419Ile). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1434972). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001955194 SCV002798291 uncertain significance Hereditary spastic paraplegia 7 2022-02-03 criteria provided, single submitter clinical testing

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