ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.973G>A (p.Gly325Arg)

gnomAD frequency: 0.00021  dbSNP: rs144303334
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518798 SCV000614995 benign not provided 2022-02-02 criteria provided, single submitter clinical testing
Invitae RCV001083131 SCV001002886 benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112021 SCV001269635 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 RCV001112021 SCV001806294 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000518798 SCV002008863 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23280630, 19779133)

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