Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000379836 | SCV000335057 | uncertain significance | not provided | 2017-01-13 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV001810441 | SCV002060151 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-11-08 | criteria provided, single submitter | clinical testing | NM_000070.2(CAPN3):c.632+3A>G is an intronic variant classified as a variant of uncertain significance in the context of calpainopathy. c.632+3A>G has been observed in a case with relevant disease (PMID: 30564623). Functional assessments of this variant are not available in the literature. c.632+3A>G has been observed in population frequency databases (gnomAD: AFR 0.01%). In summary, there is insufficient evidence to classify NM_000070.2(CAPN3):c.632+3A>G as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV001810441 | SCV002284873 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the CAPN3 gene. It does not directly change the encoded amino acid sequence of the CAPN3 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201660362, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 283137). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002503987 | SCV002815057 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2022-05-06 | criteria provided, single submitter | clinical testing |