Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001811011 | SCV000605493 | uncertain significance | not provided | 2019-09-23 | criteria provided, single submitter | clinical testing | The p.Lys27263Glu variant (rs774632104) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Exome Aggregation Consortium Browser with an overall population frequency of 0.003 percent (identified on 4 out of 116,758 chromosomes). The lysine at position 27263 is highly conserved, up to Megabat (considering 10 species) (Alamut v2.8.1) and computational analyses of the effects of the p.Lys27263Glu variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Lys27263Glu variant with certainty. |
Ambry Genetics | RCV002367699 | SCV002659420 | uncertain significance | Cardiovascular phenotype | 2020-01-17 | criteria provided, single submitter | clinical testing | The p.K20766E variant (also known as c.62296A>G), located in coding exon 161 of the TTN gene, results from an A to G substitution at nucleotide position 62296. The lysine at codon 20766 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. This alteration was identified in one individual with hypertrophic cardiomyopathy (Mademont-Soler I et al. PLoS ONE, 2017 Aug;12:e0181465). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002476019 | SCV002785108 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-07-20 | criteria provided, single submitter | clinical testing |