ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)

dbSNP: rs727503837
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000516177 SCV000202348 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516177 SCV000255669 pathogenic not provided 2021-01-25 criteria provided, single submitter clinical testing This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls (http://gnomad.broadinstitute.org). In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic.
Invitae RCV000152920 SCV000645507 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-16 criteria provided, single submitter clinical testing This variant, c.598_612del, results in the deletion of 5 amino acid(s) of the CAPN3 protein (p.Phe200_Leu204del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771137354, gnomAD 0.005%). This variant has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 9452114, 16141003, 18854869, 25135358). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 15733273); however, the role of the variant in this condition is currently unclear. ClinVar contains an entry for this variant (Variation ID: 166786). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000516177 SCV000709910 pathogenic not provided 2021-09-10 criteria provided, single submitter clinical testing In-frame deletion of 5 amino acids in a non-repeat region predicted to critically alter the protein; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15733273, 15221789, 16141003, 34720847, 34863162, 30919934, 31589614, 32528171, 9452114, 33107701, 27447704, 16372320, 17236769, 10330340, 10679950, 14981715, 17994539, 15351423, 25135358, 17157502, 34426522, 16100770)
CeGaT Center for Human Genetics Tuebingen RCV000516177 SCV001246428 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing CAPN3: PM3:Very Strong, PM2, PM4
Revvity Omics, Revvity Omics RCV000516177 SCV002018054 pathogenic not provided 2019-11-14 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000152920 SCV002581151 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-10-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474804 SCV004211546 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000516177 SCV004223990 pathogenic not provided 2022-02-11 criteria provided, single submitter clinical testing PP1, PP4_moderate, PM2, PM3_strong, PM4, PS4_moderate
Natera, Inc. RCV000152920 SCV001461313 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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