ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg)

gnomAD frequency: 0.00004  dbSNP: rs369503365
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640984 SCV000762594 pathogenic Hereditary spastic paraplegia 7 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 SPG7 protein function. ClinVar contains an entry for this variant (Variation ID: 533739). This missense change has been observed in individuals with hereditary spastic paraplegia (PMID: 18799786, 22964162, 29246610, 30747022). This variant is present in population databases (rs369503365, gnomAD 0.008%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 672 of the SPG7 protein (p.Gly672Arg).

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