ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)

gnomAD frequency: 0.00004  dbSNP: rs770469636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992956 SCV001145573 uncertain significance not provided 2020-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536024 SCV004105228 uncertain significance SETX-related disorder 2023-07-25 criteria provided, single submitter clinical testing The SETX c.7073A>G variant is predicted to result in the amino acid substitution p.Asp2358Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135150670-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769317 SCV004571877 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-01-29 criteria provided, single submitter clinical testing

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