ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)

gnomAD frequency: 0.00001  dbSNP: rs760272692
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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 RCV000699331 SCV000828037 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004669088 SCV005162241 uncertain significance Inborn genetic diseases 2024-05-06 criteria provided, single submitter clinical testing The c.3823C>T (p.R1275C) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a C to T substitution at nucleotide position 3823, causing the arginine (R) at amino acid position 1275 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004733006 SCV005358242 uncertain significance SETX-related disorder 2024-07-26 no assertion criteria provided clinical testing The SETX c.3823C>T variant is predicted to result in the amino acid substitution p.Arg1275Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino 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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