ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)

gnomAD frequency: 0.00006  dbSNP: rs770895110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000688293 SCV000815898 benign Spastic paraplegia 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV002272330 SCV002558528 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001830494 SCV002086126 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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