ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)

gnomAD frequency: 0.00002  dbSNP: rs773193617
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138298 SCV001298340 benign Hereditary spastic paraplegia 4 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Baylor Genetics RCV001138298 SCV001520034 uncertain significance Hereditary spastic paraplegia 4 2020-06-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001815024 SCV002061968 uncertain significance not specified 2020-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001138298 SCV003492442 likely benign Hereditary spastic paraplegia 4 2024-12-09 criteria provided, single submitter clinical testing

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