Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000240664 | SCV000899109 | likely pathogenic | Pituitary hormone deficiency, combined, 1 | 2019-03-15 | criteria provided, single submitter | clinical testing | The proband was homozygous for the variant p.Arg239LysfsTer12 whereas both parents were heterozygous carriers. The proband, born of a consanguineous marriage, presented with a clinical indication of panhypopituitarism and her skin biopsy was suggestive of cutaneous hyalinosis. The said variant is not reported in the 1000 genomes but it has a minor allele frequency of 0.004% in the ExAC database. In-Silico prediction of the variant is damaging by MutationTaster2. In summary, the Arg239LysfsTer12 variant meets our criteria to be classified as likely pathogenic. |
Endocrinology Clinic, |
RCV000240664 | SCV000266811 | pathogenic | Pituitary hormone deficiency, combined, 1 | 2011-11-10 | no assertion criteria provided | case-control |