Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229822 | SCV000288039 | likely benign | Duchenne muscular dystrophy | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000725621 | SCV000338229 | uncertain significance | not provided | 2016-01-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725621 | SCV000617156 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000404721 | SCV000731549 | uncertain significance | not specified | 2017-03-06 | criteria provided, single submitter | clinical testing | The p.Met387Val variant has not been previously reported in individuals with myo pathy, but has been reported in ClinVar (Variation ID# 239598). This variant has been identified in 6/90307 European chromosomes, including one hemizygote, by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs770202940). The affected amino acid is not well conserved in evolution with 5 fish species carrying a valine (Val), but computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Met387Val variant is uncertain. |
Ambry Genetics | RCV003165632 | SCV003868492 | uncertain significance | Cardiovascular phenotype | 2023-02-06 | criteria provided, single submitter | clinical testing | The p.M387V variant (also known as c.1159A>G), located in coding exon 11 of the DMD gene, results from an A to G substitution at nucleotide position 1159. The methionine at codon 387 is replaced by valine, an amino acid with highly similar properties. Based on data from gnomAD, the G allele has an overall frequency of <0.01% (8/204746) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was <0.01% (8/92345) of European (non-Finnish) alleles. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |