Submissions for variant NM_020451.3(SELENON):c.583G>A (p.Ala195Thr)

gnomAD frequency: 0.01060  dbSNP: rs115852080

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082019	SCV000113954	benign	not specified	2012-09-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082019	SCV000313563	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000082019	SCV000519857	benign	not specified	2016-04-13	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.
Athena Diagnostics Inc	RCV000710211	SCV000615147	benign	not provided	2017-10-10	criteria provided, single submitter	clinical testing
Invitae	RCV001080975	SCV000634418	benign	Eichsfeld type congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099051	SCV001255460	likely benign	SEPN1-Related Disorders	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000082019	SCV001365943	benign	not specified	2020-04-02	criteria provided, single submitter	clinical testing	p.Ala195Thr in exon 5 of SEPN1: This variant is not expected to have clinical significance because it has been identified in 1.4% (907/66106) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs115852080).
CeGaT Center for Human Genetics Tuebingen	RCV000710211	SCV004032570	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SELENON: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000082019	SCV000152701	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710211	SCV001800291	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710211	SCV001927504	likely benign	not provided		no assertion criteria provided	clinical testing