ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)

gnomAD frequency: 0.00001  dbSNP: rs1421665944
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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 RCV001982434 SCV002221186 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043685 SCV004947874 uncertain significance Inborn genetic diseases 2023-10-16 criteria provided, single submitter clinical testing The c.6805T>A (p.S2269T) alteration is located in exon 21 (coding exon 19) of the SETX gene. This alteration results from a T to A substitution at nucleotide position 6805, causing the serine (S) at amino acid position 2269 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004728977 SCV005337184 uncertain significance SETX-related disorder 2024-04-05 no assertion criteria provided clinical testing The SETX c.6805T>A variant is predicted to result in the amino acid substitution p.Ser2269Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% 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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