Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730723 | SCV000858485 | pathogenic | not provided | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Kariminejad - |
RCV001836716 | SCV000891783 | pathogenic | Abnormality of the musculature | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000030783 | SCV001203871 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg192*) in the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with limb-girdle muscular dystrophy (PMID: 22303798, 26934379). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 37202). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000030783 | SCV003931681 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000030783 | SCV004208730 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2022-03-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000030783 | SCV004238348 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2023-03-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000030783 | SCV000053444 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2011-01-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000030783 | SCV001453382 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2020-09-16 | no assertion criteria provided | clinical testing |