ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1215A>G (p.Gln405=)

gnomAD frequency: 0.00006  dbSNP: rs751839118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen RCV004999647 SCV005620276 likely benign Autosomal recessive limb-girdle muscular dystrophy 2025-01-09 reviewed by expert panel curation The NM_213599.3: c.1215A>G variant in ANO5 is a synonymous (silent) variant (p.Gln405=) that is not located in a splice region. The filtering allele frequency for this variant is 0.001230 for the South Asian population in gnomAD v4.1.0 (the lower threshold of the 95% CI of 94/85460 exome chromosomes), which is greater than the ClinGen LGMD VCEP threshold of 0.001 for BS1, and therefore meets this criterion (BS1). The SpliceAI prediction score for this variant is 0.190, which is greater than the VCEP threshold of 0.05 (BP4, BP7 not met). In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive limb girdle muscular dystrophy based on the ACMG/AMP criteria applied, as specified by the LGMD VCEP (LGMD VCEP specifications version 1.0.0; 01/09/2025): BS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV002124742 SCV002405452 benign Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2025-01-06 criteria provided, single submitter clinical testing

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