ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002342644 SCV002641190 uncertain significance Inborn genetic diseases 2021-10-08 criteria provided, single submitter clinical testing The p.A1645G variant (also known as c.4934C>G), located in coding exon 8 of the SETX gene, results from a C to G substitution at nucleotide position 4934. The alanine at codon 1645 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096534 SCV003256955 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234182 SCV003931349 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234183 SCV003931350 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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