ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)

gnomAD frequency: 0.00006  dbSNP: rs376524608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324450 SCV001515403 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546112 SCV003645883 uncertain significance Inborn genetic diseases 2022-10-07 criteria provided, single submitter clinical testing The c.7439C>T (p.A2480V) alteration is located in exon 26 (coding exon 24) of the SETX gene. This alteration results from a C to T substitution at nucleotide position 7439, causing the alanine (A) at amino acid position 2480 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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