ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2390A>G (p.His797Arg)

gnomAD frequency: 0.00001  dbSNP: rs766630908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194234 SCV000246847 uncertain significance not specified 2015-03-09 criteria provided, single submitter clinical testing
Counsyl RCV000668046 SCV000792589 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668046 SCV001419972 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-09-16 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 797 of the CAPN3 protein (p.His797Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs766630908, ExAC 0.08%). 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: 210562). 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.
Natera, Inc. RCV000668046 SCV002085564 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-21 no assertion criteria provided clinical testing

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