Submissions for variant NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)

gnomAD frequency: 0.00005  dbSNP: rs376280495

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000937727	SCV001083518	likely benign	Lowe syndrome	2024-08-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004029661	SCV002744420	uncertain significance	Nephrolithiasis/nephrocalcinosis	2016-10-11	criteria provided, single submitter	clinical testing	The p.V855I variant (also known as c.2563G>A), located in coding exon 23 of the OCRL gene, results from a G to A substitution at nucleotide position 2563. The valine at codon 855 is replaced by isoleucine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs376280495. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele was absent in 2443 total male alleles studied. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the majority of available evidence to date, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics	RCV002502871	SCV002805713	likely benign	Dent disease type 2; Lowe syndrome	2021-11-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573186	SCV001798651	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573186	SCV001969135	likely benign	not provided		no assertion criteria provided	clinical testing