ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)

gnomAD frequency: 0.00008  dbSNP: rs371687197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012690 SCV002281489 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002625345 SCV003566253 uncertain significance Inborn genetic diseases 2022-12-02 criteria provided, single submitter clinical testing The c.3640A>G (p.R1214G) 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 3640, causing the arginine (R) at amino acid position 1214 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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