ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1032C>T (p.Gly344=)

gnomAD frequency: 0.00450  dbSNP: rs116319889
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128200 SCV000171792 benign not specified 2013-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081406 SCV000252778 benign Hereditary spastic paraplegia 7 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081406 SCV000399747 uncertain significance Hereditary spastic paraplegia 7 2017-11-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000416207 SCV000493303 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SPG7: BP4, BP7, BS2
Athena Diagnostics RCV000128200 SCV001476952 benign not specified 2020-07-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847760 SCV002105830 likely benign Hereditary spastic paraplegia 2020-10-08 criteria provided, single submitter clinical testing

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