ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)

gnomAD frequency: 0.00002  dbSNP: rs759806045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992947 SCV001145564 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV001391614 SCV001451174 pathogenic Amyotrophic lateral sclerosis type 4 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000992947 SCV001962580 pathogenic not provided 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000992947 SCV002759048 likely pathogenic not provided 2022-11-27 criteria provided, single submitter clinical testing Published functional studies demonstrate this variant results in impaired RNA binding, and consequently impaired duplex unwinding and in vitro transcription termination (Leonaite et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 19696032, 23129421, 25116135, 31069529, 35936600, 28408439, 31429931, 31656689)

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