ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)

gnomAD frequency: 0.00001  dbSNP: rs750044197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000858 SCV001157933 uncertain significance not specified 2018-10-15 criteria provided, single submitter clinical testing The STEX c.1505G>A; p.Arg502Gln variant (rs534723946), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.0036% (4/111,582 alleles) in the Genome Aggregation Database. The arginine at codon 502 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg502Gln variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549143 SCV003264313 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233919 SCV003931546 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233920 SCV003931547 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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