ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.638_642del (p.Arg213fs) (rs772390221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 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, Seth G.S. Medical College RCV000240664 SCV000266811 pathogenic Pituitary hormone deficiency, combined, 1 2011-11-10 no assertion criteria provided case-control

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