ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)

gnomAD frequency: 0.00003  dbSNP: rs1400027699
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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 RCV000644823 SCV000766538 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025671 SCV004948667 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.2404A>G (p.S802G) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a A to G substitution at nucleotide position 2404, causing the serine (S) at amino acid position 802 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004533373 SCV004708419 uncertain significance SETX-related disorder 2024-02-01 no assertion criteria provided clinical testing The SETX c.2404A>G variant is predicted to result in the amino acid substitution p.Ser802Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD . At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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