ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002955067 SCV003674450 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.3181C>G (p.P1061A) alteration is located in exon 10 (coding exon 8) of the SETX gene. This alteration results from a C to G substitution at nucleotide position 3181, causing the proline (P) at amino acid position 1061 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777990 SCV004582059 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-12-07 criteria provided, single submitter clinical testing

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