Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079490 | SCV000291557 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000245708 | SCV000320352 | uncertain significance | Cardiovascular phenotype | 2022-09-01 | criteria provided, single submitter | clinical testing | The p.R644H variant (also known as c.1931G>A), located in coding exon 11 of the LMNA gene, results from a G to A substitution at nucleotide position 1931. The arginine at codon 644 is replaced by histidine, an amino acid with highly similar properties. This variant previously was described in a case report involving an infant with persistent failure to thrive, delayed motor development, skeletal abnormalities, muscle weakness and wasting, elevated CK levels, and myopathic EMG (Mercuri E et al. Muscle Nerve. 2005;31(5):602-9). Using alternate nomenclature, this variant (p.R532H c.1595G>A) has also been seen in an exome cohort, but cardiovascular history was not provided (Amendola LM et al. Genome Res. 2015;25(3):305-15). Limited functional studies suggested normal localization to the nuclear membrane and no prelamin A accumulation in mouse fibroblasts with this alteration (Casasola A et al. Nucleus, 2016;7:84-102). This amino acid position is well conserved in available vertebrates; however, histidine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Eurofins Ntd Llc |
RCV000725647 | SCV000338355 | uncertain significance | not provided | 2015-12-11 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000182377 | SCV000614027 | uncertain significance | not specified | 2017-03-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769735 | SCV000901157 | uncertain significance | Cardiomyopathy | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769735 | SCV000913870 | likely benign | Cardiomyopathy | 2018-10-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330501 | SCV001522192 | uncertain significance | Lethal tight skin contracture syndrome | 2019-06-07 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV000725647 | SCV003814729 | uncertain significance | not provided | 2019-10-14 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000148599 | SCV000190314 | likely benign | Congenital muscular dystrophy | 2014-06-01 | no assertion criteria provided | research | |
Laboratory of Diagnostic Genome Analysis, |
RCV000725647 | SCV002036340 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000725647 | SCV002037670 | uncertain significance | not provided | no assertion criteria provided | clinical testing |