Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000037498 | SCV000061156 | uncertain significance | not specified | 2012-04-11 | criteria provided, single submitter | clinical testing | The Glu1389Lys variant (MYH6) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this va riant may impact the protein though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the c linical significance of this variant. |
| Invitae | RCV000797282 | SCV000936831 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2021-09-25 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 44505). This missense change has been observed in individual(s) with clinical features of MYH6-related conditions (PMID: 29247119). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1389 of the MYH6 protein (p.Glu1389Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. |