Submissions for variant NM_006493.4(CLN5):c.415T>C (p.Phe139Leu)

dbSNP: rs794727507

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724376	SCV000229102	uncertain significance	not provided	2014-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000724376	SCV000240652	pathogenic	not provided	2022-02-11	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33507209, Sulaiman2020[casereport])
Baylor Genetics	RCV001028014	SCV001525187	uncertain significance	Neuronal ceroid lipofuscinosis 5	2019-08-13	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000724376	SCV001713644	uncertain significance	not provided	2019-05-06	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001028014	SCV002027063	uncertain significance	Neuronal ceroid lipofuscinosis 5	2021-09-05	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV001028014	SCV001190778	uncertain significance	Neuronal ceroid lipofuscinosis 5	2020-02-05	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001028014	SCV001460318	uncertain significance	Neuronal ceroid lipofuscinosis 5	2020-04-16	no assertion criteria provided	clinical testing