ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)

dbSNP: rs794727895
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180098 SCV000232470 uncertain significance not provided 2015-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332158 SCV001524377 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-30 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001332158 SCV001544778 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-08-17 criteria provided, single submitter clinical testing 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. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 359 of the CAPN3 protein (p.Pro359Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal recessive limb-girdle muscular dystrophy (PMID: 17596655, 22926650, 30564623, 34355366; Invitae). ClinVar contains an entry for this variant (Variation ID: 198690). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000180098 SCV003828931 likely pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474937 SCV004211532 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-16 criteria provided, single submitter clinical testing

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