Submissions for variant NM_213599.3(ANO5):c.267T>C (p.Asp89=)

gnomAD frequency: 0.83210  dbSNP: rs4312063

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082848	SCV000114900	benign	not specified	2013-07-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082848	SCV000150277	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000082848	SCV000268787	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Asp89Asp in exon 5 of ANO5: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 20.0% (1723/8598) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4312063).
PreventionGenetics, part of Exact Sciences	RCV000082848	SCV000317294	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000282244	SCV000369961	benign	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000334993	SCV000369962	benign	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000082848	SCV000512053	benign	not specified	2015-11-03	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	RCV000128783	SCV000612362	benign	not provided	2017-07-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108717	SCV001265986	benign	ANO5-Related Muscle Diseases	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001520679	SCV001729847	benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553827	SCV001774894	benign	Gnathodiaphyseal dysplasia	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553828	SCV001774895	benign	Miyoshi muscular dystrophy 3	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553829	SCV001774896	benign	Autosomal recessive limb-girdle muscular dystrophy type 2L	2021-07-14	criteria provided, single submitter	clinical testing
ANO5 @LOVD	RCV000128783	SCV000172425	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082848	SCV001741025	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV001535727	SCV001749828	not provided	ANO5-Related Disorders		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 11-11-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000082848	SCV001808433	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082848	SCV001921853	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000082848	SCV001932971	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082848	SCV001954851	benign	not specified		no assertion criteria provided	clinical testing