ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.835_837del (p.Ser279del)

dbSNP: rs776185666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668327 SCV000792906 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000668327 SCV003480216 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-06-20 criteria provided, single submitter clinical testing This variant, c.835_837del, results in the deletion of 1 amino acid(s) of the CAPN3 protein (p.Ser279del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776185666, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 552972). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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