ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.1234+3G>A

gnomAD frequency: 0.00001  dbSNP: rs1318676781
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002210914 SCV002496058 uncertain significance Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive 2021-03-30 criteria provided, single submitter clinical testing ADAMTSL4 NM_019032.5 exon 7 c.1234+3G>A: This variant has not been reported in the literature but is present in 0.001% (1/68026) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-150554470-G-A?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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