ClinVar Miner

Submissions for variant NM_003896.4(ST3GAL5):c.287_289del (p.Lys96del)

dbSNP: rs779767507
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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 RCV001220413 SCV001392401 uncertain significance GM3 synthase deficiency 2024-11-11 criteria provided, single submitter clinical testing This variant, c.287_289del, results in the deletion of 1 amino acid(s) of the ST3GAL5 protein (p.Lys96del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779767507, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ST3GAL5-related conditions. ClinVar contains an entry for this variant (Variation ID: 949035). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002562505 SCV003615575 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.287_289delAAA (p.K96del) alteration is located in exon 3 (coding exon 3) of the ST3GAL5 gene. This alteration consists of an in-frame deletion of 3 nucleotides between nucleotide positions c.287 and c.289, resulting in the deletion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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