Submissions for variant NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)

gnomAD frequency: 0.00136  dbSNP: rs535030441

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001722098	SCV000252311	likely benign	not provided	2020-09-01	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16534102, 20301286)
Athena Diagnostics Inc	RCV001722098	SCV000615439	uncertain significance	not provided	2023-02-27	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 uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. The variant is located in a region that is considered important for protein function and/or structure.
Invitae	RCV000817246	SCV000957796	likely benign	Hereditary spastic paraplegia 7	2024-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000817246	SCV001276264	uncertain significance	Hereditary spastic paraplegia 7	2017-04-27	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	RCV001722098	SCV002063548	uncertain significance	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847886	SCV002105889	uncertain significance	Hereditary spastic paraplegia	2019-01-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001722098	SCV002541375	uncertain significance	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002515437	SCV003598328	likely benign	Inborn genetic diseases	2022-01-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.