Submissions for variant NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)

gnomAD frequency: 0.00181  dbSNP: rs139029314

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723909	SCV000203097	uncertain significance	not provided	2014-04-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000723909	SCV000241811	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Invitae	RCV001086050	SCV000562125	benign	Lafora disease	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000723909	SCV000614198	benign	not provided	2019-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316968	SCV000851032	uncertain significance	Inborn genetic diseases	2018-12-07	criteria provided, single submitter	clinical testing	The p.A11E variant (also known as c.32C>A), located in coding exon 1 of the NHLRC1 gene, results from a C to A substitution at nucleotide position 32. The alanine at codon 11 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina	RCV001086050	SCV001317093	benign	Lafora disease	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000723909	SCV001502476	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	NHLRC1: BS2
Revvity Omics, Revvity	RCV001086050	SCV003815903	uncertain significance	Lafora disease	2020-11-09	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000723909	SCV004227194	uncertain significance	not provided	2018-12-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927484	SCV004742167	likely benign	NHLRC1-related condition	2019-10-24	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000723909	SCV001929238	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000723909	SCV001964123	likely benign	not provided		no assertion criteria provided	clinical testing