ClinVar Miner

Submissions for variant NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)

dbSNP: rs1461665171
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910928 SCV002162402 pathogenic not provided 2021-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ADAMTSL4-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu382Serfs*39) in the ADAMTSL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADAMTSL4 are known to be pathogenic (PMID: 20564469, 28642162).
Baylor Genetics RCV003147695 SCV003836067 likely pathogenic Ectopia lentis et pupillae 2022-12-09 criteria provided, single submitter clinical testing
Human Genetics Bochum, Ruhr University Bochum RCV003334402 SCV004042795 likely pathogenic See cases 2023-04-05 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2_SUP, PM3_SUP
Genome-Nilou Lab RCV003147695 SCV004049198 likely pathogenic Ectopia lentis et pupillae 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339791 SCV004049199 likely pathogenic Ectopia lentis 2, isolated, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749770 SCV005341440 likely pathogenic ADAMTSL4-related disorder 2024-05-03 no assertion criteria provided clinical testing The ADAMTSL4 c.1143delT variant is predicted to result in a frameshift and premature protein termination (p.Glu382Serfs*39). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in ADAMTSL4 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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