Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036355 | SCV000060007 | uncertain significance | not specified | 2012-02-13 | criteria provided, single submitter | clinical testing | The Lys231Arg variant (TPM1) has not been reported in the literature but has bee n identified in one individual (this individual's father) by our laboratory. Co mputational analyses (biochemical amino acid properties, conservation, PolyPhen2 , SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In the absence of additional information, the clinical significance of this vari ant cannot be determined. |