Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000019187 | SCV000267238 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2016-03-18 | criteria provided, single submitter | reference population | |
Illumina Laboratory Services, |
RCV000019187 | SCV000391025 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-04-27 | criteria provided, single submitter | clinical testing | The CAPN3 c.1795dupA (p.Thr599AsnfsTer33) variant results in a frameshift and is predicted to result in premature truncation of the protein. The p.Thr599AsnfsTer33 variant has been reported in three studies in which it is found in a total of six patients including in three in a compound heterozygous state and three in a homozygous state (Kawai et al. 1998; Chae et al. 2001; Matsuura et al. 2013). In one study, the homozygous individual was shown to be born to consanguineous asymptomatic parents who were found to be heterozygous for the variant (Matsuura et al. 2013). The p.Thr599AsnfsTer33 variant was absent from 94 controls and is reported at a frequency of 0.00012 in the East Asian population of the Exome Aggregation Consortium. This is based on one allele in a region of good coverage so the variant is presumed to be rare. Based on the evidence and the potential impact of frameshift variants, the p.Thr599AsnfsTer33 variant is classified as pathogenic for calpainopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Athena Diagnostics | RCV000518261 | SCV000612637 | pathogenic | not provided | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000518261 | SCV000701857 | pathogenic | not provided | 2016-11-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000019187 | SCV000951911 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-03-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr599Asnfs*33) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is present in population databases (rs745989418, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 9771675, 23677060, 26632398). ClinVar contains an entry for this variant (Variation ID: 17620). For these reasons, this variant has been classified as Pathogenic. |
Kariminejad - |
RCV001814001 | SCV001755443 | pathogenic | Abnormality of the musculature | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003473109 | SCV004211540 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005007875 | SCV005637800 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2024-04-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000019187 | SCV000039475 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 1998-11-01 | no assertion criteria provided | literature only | |
Gene |
RCV000019187 | SCV000040413 | not provided | Autosomal recessive limb-girdle muscular dystrophy type 2A | no assertion provided | literature only | Pathogenic variant most likely the result of a founder effect followed by genetic isolation in a population in Japan [Kawai et al 1998, Chae et al 2001]. | |
Department of Rehabilitation Medicine, |
RCV000019187 | SCV000882752 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-02-11 | no assertion criteria provided | research | The proband has another variant, NM_000070.2: c.1118G>A (p.Trp373*). |
Counsyl | RCV000019187 | SCV001132348 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2018-03-29 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000019187 | SCV001454346 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |