Submissions for variant NM_213599.3(ANO5):c.800C>G (p.Thr267Ser)

gnomAD frequency: 0.00727  dbSNP: rs138144479

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214571	SCV000268789	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Thr267Ser in exon 9 of ANO5: This variant is not expected to have clinical signi ficance because it has been identified in 2.1% (91/4406) of African American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs138144479).
Eurofins Ntd Llc (ga)	RCV000214571	SCV000337932	benign	not specified	2015-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000214571	SCV000525089	benign	not specified	2017-01-05	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	RCV001083542	SCV000645923	benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710582	SCV000840824	benign	not provided	2017-09-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105482	SCV001262450	benign	ANO5-Related Muscle Diseases	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab	RCV002259735	SCV002539192	benign	Gnathodiaphyseal dysplasia	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259737	SCV002539193	benign	Miyoshi muscular dystrophy 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259736	SCV002539194	benign	Autosomal recessive limb-girdle muscular dystrophy type 2L	2021-12-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710582	SCV004563408	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing