ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)

gnomAD frequency: 0.00001  dbSNP: rs747819910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228061 SCV001400445 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-06-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 566 of the CAPN3 protein (p.Glu566Lys). This variant is present in population databases (rs747819910, gnomAD 0.02%). This missense change has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 29970176, 31788660). ClinVar contains an entry for this variant (Variation ID: 955422). 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 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.
GeneDx RCV002265011 SCV002547091 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing Reported in individuals diagnosed with limb-girdle muscular dystrophy who also harbored another pathogenic allele in CAPN3 (Peric et al., 2019; Fichna et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29970176, 31788660)
Baylor Genetics RCV003473793 SCV004211525 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001228061 SCV002085533 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-03-23 no assertion criteria provided clinical testing

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