Submissions for variant NM_001166114.2(PNPLA6):c.1362+8T>C

gnomAD frequency: 0.68799  dbSNP: rs620744

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000307313	SCV000415644	benign	Hereditary spastic paraplegia 39	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000431876	SCV000519579	benign	not specified	2016-01-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000992667	SCV001145122	benign	not provided	2019-07-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000307313	SCV001729830	benign	Hereditary spastic paraplegia 39	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789319	SCV002031533	benign	Laurence-Moon syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789317	SCV002031534	benign	Ataxia-hypogonadism-choroidal dystrophy syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789318	SCV002031535	benign	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000307313	SCV002031536	benign	Hereditary spastic paraplegia 39	2021-10-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000992667	SCV005313102	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000431876	SCV001744621	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000431876	SCV001956463	benign	not specified		no assertion criteria provided	clinical testing