ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.301+5G>A

dbSNP: rs1351664483
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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 RCV001067081 SCV001232117 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2023-05-15 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 860715). This variant has not been reported in the literature in individuals affected with SLC39A13-related conditions. This sequence change falls in intron 2 of the SLC39A13 gene. It does not directly change the encoded amino acid sequence of the SLC39A13 protein. It affects a nucleotide within the consensus splice site.

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