Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000473096 | SCV000546157 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2016-07-15 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides from exon 4 of the MYH6 mRNA (c.212_213delTG), causing a frameshift at codon 71. This creates a premature translational stop signal (p.Val71Glufs*17) and is expected to result in an absent or disrupted protein product. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH6 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYH6-related disease. |