ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.638G>A (p.Arg213Gln)

gnomAD frequency: 0.00010  dbSNP: rs147673636
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090550 SCV001246157 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001228310 SCV001400705 likely benign Hereditary spastic paraplegia 7 2023-03-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847152 SCV002105896 uncertain significance Hereditary spastic paraplegia 2019-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001090550 SCV003936212 uncertain significance not provided 2022-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004031224 SCV004956562 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.638G>A (p.R213Q) alteration is located in exon 5 (coding exon 5) of the SPG7 gene. This alteration results from a G to A substitution at nucleotide position 638, causing the arginine (R) at amino acid position 213 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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