ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)

gnomAD frequency: 0.00006  dbSNP: rs886042478
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000489536 SCV000334423 pathogenic not provided 2018-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000489536 SCV000577327 likely pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 12461690, 12890817, 15689361, 16100770, 16141003, 15221789, 16372320, 15351423, 20635405, 14981715, 27023906, 17157502, 31980526, 31862442, 27447704, 26886200, 29970176, 35157181, 25135358, 31555977)
Athena Diagnostics Inc RCV000489536 SCV000612642 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV000311426 SCV000830891 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 82 of the CAPN3 protein (p.Pro82Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 12461690, 12890817, 15221789, 15351423, 16100770, 16141003, 16372320, 17157502, 20635405, 25135358, 26886200, 27447704). ClinVar contains an entry for this variant (Variation ID: 282783). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000489536 SCV001246423 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000489536 SCV001446731 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Counsyl RCV000311426 SCV000788754 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2016-12-15 no assertion criteria provided clinical testing
PerkinElmer Genomics RCV000489536 SCV002018075 pathogenic not provided 2019-05-10 no assertion criteria provided clinical testing

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