Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000236146 | SCV000230415 | benign | not specified | 2017-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083979 | SCV000290695 | benign | Walker-Warburg congenital muscular dystrophy | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000513718 | SCV000293454 | benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22995991, 18645206, 17113772, 14647208, 25898921) |
Genetic Services Laboratory, |
RCV000236146 | SCV000594778 | likely benign | not specified | 2015-12-31 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000513718 | SCV000610960 | likely benign | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000236146 | SCV001157673 | uncertain significance | not specified | 2018-10-23 | criteria provided, single submitter | clinical testing | The FKRP c.235G>A; p.Val79Met variant (rs104894683) is reported in several individuals affected with limb girdle muscular dystrophy (de Paula 2003), including three siblings that carried the p.Val79Met variant in trans to a nonsense variant (Vieira 2006). Of the three siblings, two were severely affected and also carried a p.Pro89Ala variant, which was not identified in the third mildly affected sibling (Vieira 2006). The p.Val79Met variant is reported in ClinVar (Variation ID: 4229) and is found in the African population with an overall allele frequency of 1.5% (320/21382 alleles, including one homozygote) in the Genome Aggregation Database. The valine at codon 79 is moderately conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to conflicting information, the clinical significance of the p.Val79Met variant is uncertain at this time. References: de Paula F et al. Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet. 2003 Dec;11(12):923-30. Vieira NM et al. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. Neuromuscul Disord. 2006 Dec;16(12):870-3. |
Ambry Genetics | RCV002444421 | SCV002733182 | likely benign | Cardiovascular phenotype | 2019-03-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
OMIM | RCV000004450 | SCV000024623 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2003-12-01 | no assertion criteria provided | literature only | |
Natera, |
RCV000004450 | SCV001460331 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2020-01-10 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000236146 | SCV002034615 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000513718 | SCV002036078 | likely benign | not provided | no assertion criteria provided | clinical testing |