ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.546C>A (p.Asp182Glu)

gnomAD frequency: 0.00004  dbSNP: rs199748733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992943 SCV001145560 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346197 SCV002653869 uncertain significance Inborn genetic diseases 2019-11-06 criteria provided, single submitter clinical testing The p.D182E variant (also known as c.546C>A), located in coding exon 4 of the SETX gene, results from a C to A substitution at nucleotide position 546. The aspartic acid at codon 182 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549817 SCV003304495 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-02-21 criteria provided, single submitter clinical testing

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