Submissions for variant NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)

gnomAD frequency: 0.00551  dbSNP: rs111475461

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128202	SCV000171794	benign	not specified	2014-04-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989665	SCV000259517	benign	Hereditary spastic paraplegia 7	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000128202	SCV000309380	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000989665	SCV000399752	uncertain significance	Hereditary spastic paraplegia 7	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000585517	SCV000692882	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	SPG7: PM5, BS1, BS2
Eurofins Ntd Llc (ga)	RCV000128202	SCV000709275	benign	not specified	2017-06-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000128202	SCV000844094	benign	not specified	2020-08-13	criteria provided, single submitter	clinical testing
Mendelics	RCV000989665	SCV001140197	benign	Hereditary spastic paraplegia 7	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000989665	SCV001159221	benign	Hereditary spastic paraplegia 7	2023-11-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847762	SCV002105842	benign	Hereditary spastic paraplegia	2021-04-04	criteria provided, single submitter	clinical testing