ClinVar Miner

Submissions for variant NM_005149.3(TBX19):c.665+1G>T

dbSNP: rs1649150256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250988 SCV002521292 pathogenic Congenital isolated adrenocorticotropic hormone deficiency 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The patient's phenotype is considered compatible with TBX19 related disorder. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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