ClinVar Miner

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

gnomAD frequency: 0.00727  dbSNP: rs138144479
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Total submissions: 10
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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 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

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