Submissions for variant NM_001611.5(ACP5):c.814C>T (p.Arg272Cys)

gnomAD frequency: 0.00338  dbSNP: rs147025508

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179812	SCV000232120	benign	not specified	2015-05-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514245	SCV000610007	likely benign	not provided	2017-06-12	criteria provided, single submitter	clinical testing
Invitae	RCV000537794	SCV000639587	benign	Spondyloenchondrodysplasia with immune dysregulation	2024-01-29	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000179812	SCV000864307	benign	not specified	2017-03-17	criteria provided, single submitter	clinical testing	BS1, BS2, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000537794	SCV000898501	uncertain significance	Spondyloenchondrodysplasia with immune dysregulation	2021-11-23	criteria provided, single submitter	clinical testing	ACP5 NM_001111035.2 exon 7 p.Arg272Cys (c.814C>T): This variant has not been reported in the literature but is present in 0.4% (595/126376) of European alleles, including 3 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/19-11685989-G-A). This variant is present in ClinVar, with several labs classifying this variant as likely benign or benign (Variation ID:198455). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen	RCV000514245	SCV001246014	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	ACP5: BP4, BS2
GeneDx	RCV000514245	SCV001993674	uncertain significance	not provided	2022-04-04	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
PreventionGenetics, part of Exact Sciences	RCV003955090	SCV004769636	likely benign	ACP5-related disorder	2022-05-03	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514245	SCV001799199	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514245	SCV001931762	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000514245	SCV001963823	likely benign	not provided		no assertion criteria provided	clinical testing