Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037442 | SCV000061100 | uncertain significance | not specified | 2012-01-13 | criteria provided, single submitter | clinical testing | The Glu475Asp variant (MYH6) has not been reported in the literature nor previou sly identified by our laboratory. Glutamic acid (Glu) at this position in conse rved across evolutionarily distant species, suggesting that a change may not be tolerated. Computational analysis (AlignGVGD, SIFT, PolyPhen2) suggest that thi s change may impact protein function; however, the accuracy of these tools is un known. In summary, additional information is needed to determine the clinical s ignificance of this variant. |
Prevention |
RCV003415773 | SCV004107654 | uncertain significance | MYH6-related condition | 2023-05-23 | criteria provided, single submitter | clinical testing | The MYH6 c.1425G>C variant is predicted to result in the amino acid substitution p.Glu475Asp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |