Submissions for variant NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) (rs78324544)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000188203	SCV000241810	likely benign	not specified	2013-01-31	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.
Invitae	RCV000638342	SCV000759838	likely benign	Lafora disease	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000720848	SCV000851732	uncertain significance	Seizures	2018-09-21	criteria provided, single submitter	clinical testing	Insufficient evidence
Illumina Clinical Services Laboratory,Illumina	RCV000638342	SCV001312946	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.