ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.25C>T (p.Arg9Cys)

gnomAD frequency: 0.00002  dbSNP: rs1368314619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001069528 SCV001234701 uncertain significance Hereditary spastic paraplegia 7 2022-02-27 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 9 of the SPG7 protein (p.Arg9Cys). 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: 862744). 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.
CeGaT Center for Human Genetics Tuebingen RCV002511031 SCV002822336 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554580 SCV003751766 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.25C>T (p.R9C) alteration is located in exon 1 (coding exon 1) of the SPG7 gene. This alteration results from a C to T substitution at nucleotide position 25, causing the arginine (R) at amino acid position 9 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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