ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)

gnomAD frequency: 0.00002  dbSNP: rs138167195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002036086 SCV002315198 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454319 SCV002617418 uncertain significance Inborn genetic diseases 2024-05-23 criteria provided, single submitter clinical testing The c.3605A>G (p.D1202G) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a A to G substitution at nucleotide position 3605, causing the aspartic acid (D) at amino acid position 1202 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003234164 SCV003931420 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003234165 SCV003931421 uncertain significance Amyotrophic lateral sclerosis type 4 2023-02-08 criteria provided, single submitter clinical testing

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