Submissions for variant NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter)

dbSNP: rs151340621

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Revvity Omics, Revvity	RCV001723558	SCV002017373	pathogenic	not provided	2021-02-23	criteria provided, single submitter	clinical testing
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi	RCV000012565	SCV002102786	pathogenic	Dent disease type 1	2022-03-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001723558	SCV003444662	pathogenic	not provided	2024-04-08	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg648*) in the CLCN5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLCN5 are known to be pathogenic (PMID: 22876375, 25907713). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Dent disease (PMID: 8559248, 27889724). ClinVar contains an entry for this variant (Variation ID: 11797). For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000012565	SCV000032799	pathogenic	Dent disease type 1	1997-08-01	no assertion criteria provided	literature only
GeneReviews	RCV000012565	SCV000243788	not provided	Dent disease type 1		no assertion provided	literature only
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723558	SCV001955250	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723558	SCV001968673	pathogenic	not provided		no assertion criteria provided	clinical testing