Submissions for variant NM_000276.4(OCRL):c.1587C>G (p.Ala529=)

gnomAD frequency: 0.00013  dbSNP: rs375634816

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002068659	SCV002372774	likely benign	Lowe syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502708	SCV002810852	likely benign	Dent disease type 2; Lowe syndrome	2022-01-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004526046	SCV005039537	likely benign	not specified	2024-03-11	criteria provided, single submitter	clinical testing	Variant summary: OCRL c.1587C>G alters a non-conserved nucleotide resulting in a synonymous change. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.7e-05 in 183467 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1587C>G in individuals affected with Dent Disease and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 732134). Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences	RCV003958249	SCV004785985	likely benign	OCRL-related disorder	2022-12-13	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).