ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)

gnomAD frequency: 0.00229  dbSNP: rs149718424
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489114 SCV000576772 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported in peer-reviewed literature as pathogenic or benign to our knowledge
Invitae RCV001086400 SCV001019887 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001662474 SCV001880504 benign not specified 2020-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002455945 SCV002736090 likely benign Inborn genetic diseases 2020-02-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV003233649 SCV003931503 likely benign Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233650 SCV003931504 likely benign Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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