Submissions for variant NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe)

gnomAD frequency: 0.00011  dbSNP: rs199602365

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000334286	SCV000447355	uncertain significance	Brittle cornea syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001548254	SCV001768132	uncertain significance	not provided	2024-08-01	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001548254	SCV002367116	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278571	SCV002567201	uncertain significance	Connective tissue disorder	2020-10-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348102	SCV002653013	likely benign	Cardiovascular phenotype	2023-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004757216	SCV005351521	likely benign	PRDM5-related disorder	2024-05-06	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).