ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys)

gnomAD frequency: 0.00001  dbSNP: rs1368398872
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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) RCV000594917 SCV000702511 uncertain significance not provided 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV001043387 SCV001207131 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 257 of the CAPN3 protein (p.Glu257Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of CAPN3-related conditions (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 497796). 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. RCV001043387 SCV001454326 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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