ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly)

gnomAD frequency: 0.00001  dbSNP: rs752140967
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516544 SCV000615176 uncertain significance not specified 2016-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448561 SCV002612250 uncertain significance Inborn genetic diseases 2019-10-31 criteria provided, single submitter clinical testing The p.E1074G variant (also known as c.3221A>G), located in coding exon 8 of the SETX gene, results from an A to G substitution at nucleotide position 3221. The glutamic acid at codon 1074 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003233679 SCV003931445 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233680 SCV003931446 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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