ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg)

gnomAD frequency: 0.00001  dbSNP: rs746311413
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000283988 SCV000343574 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing
Invitae RCV000644991 SCV000766727 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-04-09 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) referred for clinical testing for limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 289247). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 345 of the CAPN3 protein (p.Pro345Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine.
Natera, Inc. RCV000644991 SCV002085497 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-12-03 no assertion criteria provided clinical testing

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