ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) (rs149969786)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000644992 SCV000800486 uncertain significance Limb-girdle muscular dystrophy, type 2A 2017-01-03 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171232 SCV000221429 likely pathogenic not provided no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000171232 SCV000860850 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV000644992 SCV000766728 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 777 of the CAPN3 protein (p.Ile777Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs149969786, ExAC 0.01%). This variant has been reported in an individual affected with distal posterior limb muscle atrophy and weakness (PMID: 27671536). ClinVar contains an entry for this variant (Variation ID: 191056). 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. 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.

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