ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.143-64T>G

dbSNP: rs1064796954
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486866 SCV000574214 likely pathogenic not provided 2017-03-23 criteria provided, single submitter clinical testing The S53A variant, present in an alternate transcript of the POU1F1 gene, has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S53A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S53A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The S53A variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253703 SCV001429552 uncertain significance Pituitary hormone deficiency, combined, 1 2016-08-19 criteria provided, single submitter clinical testing
OMIM RCV001253703 SCV001934190 pathogenic Pituitary hormone deficiency, combined, 1 2024-10-10 no assertion criteria provided literature only

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