ClinVar Miner

Submissions for variant NC_000002.11:g.(?_86073480)_(86075347_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582523 SCV005067884 pathogenic GM3 synthase deficiency 2023-08-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-5 of the ST3GAL5 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant disrupts a region of the ST3GAL5 protein in which other variant(s) (p.Gly201Arg) have been determined to be pathogenic (PMID: 27232954). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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