ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6013G>A (p.Val2005Met)

gnomAD frequency: 0.00016  dbSNP: rs148568105
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762580 SCV000892913 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662806 SCV001880518 likely benign not specified 2020-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855957 SCV002269891 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352274 SCV002656208 uncertain significance Inborn genetic diseases 2020-02-13 criteria provided, single submitter clinical testing The p.V2005M variant (also known as c.6013G>A), located in coding exon 13 of the SETX gene, results from a G to A substitution at nucleotide position 6013. The valine at codon 2005 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000762580 SCV005410844 uncertain significance not provided 2023-08-29 criteria provided, single submitter clinical testing BS1
GeneDx RCV000762580 SCV005882210 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing Observed as a heterozygous variant in a patient with Charcot-Marie-Tooth disease in published literature, although additional clinical information was not provided (PMID: 26752306); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26752306)

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