ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln)

gnomAD frequency: 0.00001  dbSNP: rs1375691407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687264 SCV000814823 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 18 of the CAPN3 protein (p.Arg18Gln). This variant is present in population databases (no rsID available, gnomAD no frequency). 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: 567245). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002485608 SCV002792686 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000687264 SCV001461297 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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