ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.585+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314468 SCV004013853 likely pathogenic Pseudohypoparathyroidism type I A criteria provided, single submitter clinical testing The splice variant is not observed in the gnomAD v2.1.1 dataset. This variant at canonical splice site is 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. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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