ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.257+970_257+972del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989869 SCV004807990 uncertain significance Pseudohypoparathyroidism type 1B 2024-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532248 SCV004748638 uncertain significance GNAS-related disorder 2024-01-23 no assertion criteria provided clinical testing The GNAS c.264_*2delATA variant is predicted to result in extension of the open reading frame (p.*88Tyrext*2). This variant corresponds to an intronic position in the primary GNAS transcript (NM_000516.7:c.257+970_257+972del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0053% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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