ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) (rs557164942)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000173976 SCV000255655 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173976 SCV000331924 likely pathogenic not provided 2016-08-18 criteria provided, single submitter clinical testing
Invitae RCV000201107 SCV001387850 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2020-02-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 493 of the CAPN3 protein (p.Arg493Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs557164942, ExAC 0.003%). This variant has been observed in several individuals affected with autosomal recessive limb-girdle muscular dystrophy (PMID: 10330340, 18334579, 17236769, 18073330, 25079074). ClinVar contains an entry for this variant (Variation ID: 193792). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000201107 SCV000791903 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2017-05-31 no assertion criteria provided clinical testing

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