ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002403715 SCV002706016 uncertain significance Inborn genetic diseases 2020-09-10 criteria provided, single submitter clinical testing The p.Q552P variant (also known as c.1655A>C), located in coding exon 8 of the SETX gene, results from an A to C substitution at nucleotide position 1655. The glutamine at codon 552 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003774444 SCV004574830 likely benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733507 SCV005355748 uncertain significance SETX-related disorder 2024-06-28 no assertion criteria provided clinical testing The SETX c.1655A>C variant is predicted to result in the amino acid substitution p.Gln552Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. A different variant affecting the same amino acid (p.Gln552His) was reported in one individual with peripheral neuropathies, who also carried another variant in this gene (Table 1, Laššuthová et al. 2016. PubMed ID: 27549087). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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