ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) (rs749863676)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711012 SCV000841328 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711012 SCV000892127 likely pathogenic not provided 2018-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000544623 SCV000798714 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-03-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711012 SCV000338659 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000544623 SCV000645459 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-10-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 334 of the CAPN3 protein (p.His334Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is present in population databases (rs749863676, ExAC 0.01%). This variant has been reported in an individual affected with limb-girdle muscular dystrophy type 2A (LGMD2A) (PMID: 18055493). 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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