Submissions for variant NM_001166114.2(PNPLA6):c.1253-6C>T

gnomAD frequency: 0.32237  dbSNP: rs574930

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000346791	SCV000415642	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	RCV000425527	SCV000519578	benign	not specified	2016-02-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000346791	SCV001729829	benign	Hereditary spastic paraplegia 39	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789316	SCV002031528	benign	Laurence-Moon syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789314	SCV002031529	benign	Ataxia-hypogonadism-choroidal dystrophy syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789315	SCV002031530	benign	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000346791	SCV002031532	benign	Hereditary spastic paraplegia 39	2021-10-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718530	SCV005313101	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000425527	SCV001742393	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000425527	SCV001951429	benign	not specified		no assertion criteria provided	clinical testing