ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)

dbSNP: rs754889480
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeniaGeo, Laboratorio Genia RCV000855432 SCV000994985 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L 2019-10-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784470 SCV002016426 pathogenic not provided 2019-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858524 SCV002116738 pathogenic Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2024-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr453*) 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 (rs754889480, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with autosomal recessive myopathy (PMID: 31353849). ClinVar contains an entry for this variant (Variation ID: 694040). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003985437 SCV003806861 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2022-08-19 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderated, PM3 moderated

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