ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe)

dbSNP: rs794727318
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597464 SCV000700773 likely pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000798205 SCV000937807 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CAPN3 protein function. ClinVar contains an entry for this variant (Variation ID: 195450). This missense change has been observed in individual(s) with clinical features of autosomal recessive limb-girdle muscular dystrophy (PMID: 17562833, 30919934). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 712 of the CAPN3 protein (p.Leu712Phe).
Athena Diagnostics Inc RCV000597464 SCV001476314 likely pathogenic not provided 2020-04-15 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. 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.
Baylor Genetics RCV003462280 SCV004213765 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-06-15 criteria provided, single submitter clinical testing

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