ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.1_2delinsGC (p.Met1Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002847558 SCV003228029 pathogenic not provided 2022-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change affects the initiator methionine of the GNAS mRNA. The next in-frame methionine is located at codon 60. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. Disruption of the initiator codon has been observed in individual(s) with clinical features of pseudopseudohypoparathyroidism (PMID: 21713996). In at least one individual the variant was observed to be de novo. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of the initiator codon affects GNAS function (PMID: 21713996).

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