Submissions for variant NM_001199397.3(NEK1):c.782G>A (p.Arg261His)

gnomAD frequency: 0.00216  dbSNP: rs200161705

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180637	SCV000233116	likely benign	not specified	2014-12-15	criteria provided, single submitter	clinical testing
Centre for Genomic and Experimental Medicine, University of Edinburgh	RCV000492285	SCV000323209	uncertain significance	Motor neuron disease	2024-02-15	criteria provided, single submitter	case-control
GeneDx	RCV000180637	SCV000713957	likely benign	not specified	2018-03-01	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	RCV001086419	SCV000752981	benign	Short-rib thoracic dysplasia 6 with or without polydactyly	2024-01-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659006	SCV000780809	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	NEK1: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000659006	SCV001159353	benign	not provided	2020-03-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001086419	SCV001309890	likely benign	Short-rib thoracic dysplasia 6 with or without polydactyly	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
OMIM	RCV002287889	SCV000693686	risk factor	Amyotrophic lateral sclerosis, susceptibility to, 24	2018-02-28	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003917685	SCV004734110	likely benign	NEK1-related disorder	2021-02-04	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).