ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1039-1G>A

dbSNP: rs2146304851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251256 SCV002521822 likely pathogenic Pseudopseudohypoparathyroidism 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 through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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