ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.2004del (p.Leu669fs)

dbSNP: rs886043172
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000523626 SCV000338804 pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000523626 SCV000617770 pathogenic not provided 2022-02-05 criteria provided, single submitter clinical testing Reported as pathogenic in ClinVar (ref; ClinVar SCV000617770; Landrum et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28888072, 23663589)
Invitae RCV000700782 SCV000829553 pathogenic Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2023-12-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu669Phefs*6) in the ANO5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANO5 are known to be pathogenic (PMID: 21186264, 23606453, 25891276, 30919934). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with ANO5-related muscular dystrophy (PMID: 23663589). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 285669). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001333777 SCV001526456 pathogenic Miyoshi muscular dystrophy 3 2018-07-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV000523626 SCV002017225 pathogenic not provided 2019-06-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004525917 SCV005040504 pathogenic Autosomal recessive limb-girdle muscular dystrophy 2024-03-01 criteria provided, single submitter clinical testing Variant summary: ANO5 c.2004delG (p.Leu669PhefsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.2e-05 in 251436 control chromosomes. c.2004delG has been reported in the literature in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 285669). Based on the evidence outlined above, the variant was classified as pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV003483604 SCV004228700 not provided Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 04-06-2020 by Lab 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.

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