Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037536 | SCV000061194 | uncertain significance | not specified | 2012-05-31 | criteria provided, single submitter | clinical testing | The Lys1900Asn variant in MYH6 has not been reported in the literature nor previ ously identified by our laboratory. Lysine (Lys) at position 1900 is highly cons erved in mammals and evolutionarily distant species, though computational analys es (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not pr ovide strong support for or against an impact to the protein. Additional informa tion is needed to fully assess the clinical significance of the Lys1900Asn varia nt. |