Submissions for variant NM_019032.6(ADAMTSL4):c.2560-4G>A

gnomAD frequency: 0.00030  dbSNP: rs374389962

Total submissions: 3

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	RCV000768147	SCV000898515	uncertain significance	Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive	2021-03-30	criteria provided, single submitter	clinical testing	ADAMTSL4 NM_019032 exon 16 c.2560-4G>A: This variant has not been reported in the literature but is present in 0.1% (52/29044) of South Asian alleles, including 2 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs374389962). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000897387	SCV001041528	likely benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955497	SCV004776046	likely benign	ADAMTSL4-related disorder	2023-08-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).