ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)

gnomAD frequency: 0.00001  dbSNP: rs1285317289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811831 SCV002047930 uncertain significance not provided 2021-02-11 criteria provided, single submitter clinical testing The SETX p.Lys995Asn variant (rs1285317289), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.0008% (2/250,544 alleles) in the Genome Aggregation Database. The lysine at codon 995 is weakly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.259). Based on the available information, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869470 SCV002240034 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-07-06 criteria provided, single submitter clinical testing

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