ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)

dbSNP: rs1445388214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689471 SCV000817124 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002473107 SCV002771090 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002473107 SCV003799528 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing The SETX c.4103G>T, p.Cys1368Phe variant (rs1445388214), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 568959). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The cysteine at codon 1368 is weakly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.295). Due to limited information, the clinical significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences RCV004535715 SCV004104555 uncertain significance SETX-related disorder 2023-07-13 criteria provided, single submitter clinical testing The SETX c.4103G>T variant is predicted to result in the amino acid substitution p.Cys1368Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135202882-C-A). 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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