Submissions for variant NM_019032.6(ADAMTSL4):c.2254C>T (p.Gln752Ter)

dbSNP: rs778345588

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001579605	SCV004291998	pathogenic	not provided	2023-09-09	criteria provided, single submitter	clinical testing	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: 1209964). This premature translational stop signal has been observed in individual(s) with autosomal recessive ectopia lentis (PMID: 28642162). This variant is present in population databases (rs778345588, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gln752*) 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). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579605	SCV001807877	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579605	SCV001971342	pathogenic	not provided		no assertion criteria provided	clinical testing