ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)

gnomAD frequency: 0.00004  dbSNP: rs566415362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201148 SCV000255641 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L 2015-09-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000521518 SCV000331174 pathogenic not provided 2015-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000521518 SCV000617769 pathogenic not provided 2023-07-20 criteria provided, single submitter clinical testing Nonsense 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); Reported previously along with a second variant, in individuals reported to have limb-girdle muscular dystrophy type 2L and Miyoshi-like muscular dystrophy (Sarkozy et al., 2012; Wahbi et al., 2013); This variant is associated with the following publications: (PMID: 23041008, 32819793, 32367299, 32528171, 22980763)
Invitae RCV001853222 SCV002244274 pathogenic Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2021-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg404*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive ANO5-related conditions (PMID: 22980763, 32367299, 32819793). ClinVar contains an entry for this variant (Variation ID: 217143). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003982946 SCV004797927 pathogenic ANO5-related condition 2023-12-06 criteria provided, single submitter clinical testing The ANO5 c.1210C>T variant is predicted to result in premature protein termination (p.Arg404*). This variant was reported in an individuals with autosomal recessive ANO5-related muscle disorders (Sarkozy et al 2012. PubMed ID: 22980763; Wahbi K et al 2012. PubMed ID: 23041008; Supp. Table 4 in Töpf A et al 2020. PubMed ID: 32528171). This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD. Nonsense variants in ANO5 are expected to be pathogenic. This variant is interpreted as pathogenic.

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