Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000266618 | SCV000339526 | likely pathogenic | not provided | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000666686 | SCV000791021 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666686 | SCV001402514 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-09-26 | criteria provided, single submitter | clinical testing | This variant, c.2258_2260del, results in the deletion of 1 amino acid(s) of the CAPN3 protein (p.Asp753del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has been observed in individual(s) with limb-girdle muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 286195). This variant disrupts a region of the CAPN3 protein in which other variant(s) (p.Asp753Asn) have been observed in individuals with CAPN3-related conditions (PMID: 16141003, 18854869). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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. |
Revvity Omics, |
RCV000266618 | SCV004234938 | uncertain significance | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing |