ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)

gnomAD frequency: 0.00001  dbSNP: rs1135401777
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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, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496133 SCV000586723 likely pathogenic Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism 2017-08-01 criteria provided, single submitter clinical testing De novo missense variant identified in a female patient with mild ID, obesity, normal growth, several fractures, hypertonia lower limbs, movement anomalies.
GeneDx RCV003313085 SCV004012356 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 23533243, 29158550)

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