ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2988A>G (p.Leu996=)

gnomAD frequency: 0.00170  dbSNP: rs111846884
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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 RCV001086002 SCV000289955 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000386665 SCV000345522 likely benign not specified 2016-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761852 SCV000892057 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SACS: BP4, BP7, BS2
Athena Diagnostics RCV000761852 SCV001145328 benign not provided 2018-12-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109613 SCV001266967 uncertain significance Charlevoix-Saguenay spastic ataxia 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.
Genome-Nilou Lab RCV001109613 SCV001653327 likely benign Charlevoix-Saguenay spastic ataxia 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000761852 SCV001891056 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847974 SCV002105025 likely benign Hereditary spastic paraplegia 2020-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001109613 SCV002086703 likely benign Charlevoix-Saguenay spastic ataxia 2020-09-25 no assertion criteria provided clinical testing

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