ClinVar Miner

Submissions for variant NM_006261.4(PROP1):c.3G>C (p.Met1Ile) (rs1064797071)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenePathDx,Causeway Health Care Private Ltd RCV000487438 SCV000574528 likely pathogenic Pituitary hormone deficiency, combined 2 2017-01-01 criteria provided, single submitter clinical testing 24 years old male presented to endocrinologist with combined pituitary hormone deficiency. Next generation DNA sequencing done on peripheral blood sample has revealed the presence of a clinically relevant homozygous variant c.3G>C in the PROP1 gene. This variant is being classified as a “Likely Pathogenic” based on available evidence in the databases and in silico mutation prediction meth+AH9ods. This is a novel variant, hence genotype-phenotype correlation cannot be predicted at this moment.

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