Submissions for variant NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)

gnomAD frequency: 0.00021  dbSNP: rs148553723

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000472696	SCV000562123	likely benign	Lafora disease	2023-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313232	SCV000847699	likely benign	Inborn genetic diseases	2016-08-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000472696	SCV001312947	uncertain significance	Lafora disease	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001675909	SCV001894774	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001675909	SCV004163133	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	NHLRC1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003915316	SCV004736301	likely benign	NHLRC1-related condition	2019-05-06	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).