ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)

gnomAD frequency: 0.00002  dbSNP: rs778882347
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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 RCV000517506 SCV000615168 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing
GeneDx RCV001755772 SCV001985420 uncertain significance not provided 2020-06-11 criteria provided, single submitter clinical testing Identified in a patient with adult-onset ALS/FTD who also had a C9orf72 repeat expansion that may have been responsible for the phenotype in published literature (Kenna et al., 2013); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28413711, 23881933)
Genome-Nilou Lab RCV003233673 SCV003931492 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233674 SCV003931493 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing
Invitae RCV003766933 SCV004607518 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-05-02 criteria provided, single submitter clinical testing

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