ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)

gnomAD frequency: 0.00005  dbSNP: rs752401008
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692442 SCV000820267 likely benign Hereditary spastic paraplegia 11 2024-06-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765211 SCV000896447 uncertain significance Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468005 SCV002763827 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468006 SCV002763828 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000692442 SCV002763830 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
GeneDx RCV003223668 SCV003919436 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27397505)
Athena Diagnostics RCV003223668 SCV004229166 uncertain significance not provided 2022-11-17 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Revvity Omics, Revvity RCV003223668 SCV004237659 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003223668 SCV005193761 uncertain significance not provided criteria provided, single submitter not provided

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