ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322695 SCV004027727 likely pathogenic Pseudohypoparathyroidism type I A 2023-07-28 criteria provided, single submitter clinical testing Criteria applied: PP4_MOD,PS4_SUP,PM1_SUP,PM2_SUP,PP2,PP3
PreventionGenetics, part of Exact Sciences RCV004723265 SCV005336103 uncertain significance GNAS-related disorder 2024-05-15 no assertion criteria provided clinical testing The GNAS c.878A>G variant is predicted to result in the amino acid substitution p.Lys293Arg. This variant (also reported as p.K294R in NM_001077488.1) was reported in an individual with pseudohypoparathyroidism 1a (Thiele et al 2015. PubMed ID: 25802881). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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