ClinVar Miner

Submissions for variant NM_006259.3(PRKG2):c.1154+1G>A

dbSNP: rs995285513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) RCV003228694 SCV003924073 pathogenic Acromesomelic dysplasia 4 2023-05-11 criteria provided, single submitter clinical testing The c.1154+1G>A variant occurs in a splice consensus site, predicted to alter splicing and result in a loss or disruption of normal protein function (PVS1). The variant is absent in most population databases (genomAD) and has a low frequency in the Brazilian population (MAF 0.000427, https://abraom.ib.usp.br/) (PM2). The patient's phenotype is compatible with the diagnosis of Acromesomelic dysplasia, without other genetic alterations that explain the phenotype (PP4). This variant was identified in homozygous in affected patient.

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