ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.823A>G (p.Ser275Gly)

dbSNP: rs2146285803
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819306 SCV002069430 likely pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing DNA sequence analysis of the GNAS gene demonstrated a sequence change, c.823A>G, in exon 10 that results in an amino acid change, p.Ser275Gly. This sequence change does not appear to have been previously described in patients with GNAS-related disorders and has also not been described as a known benign sequence change in the GNAS gene. The p.Ser275Gly change affects a moderately conserved amino acid residue located in a domain of the GNAS protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Ser275Gly substitution. The c.823A>G sequence change appears to be a de novo event in one patient.

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