ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.21dup (p.Lys8Ter)

dbSNP: rs2145914732
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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 RCV001915812 SCV002181436 pathogenic not provided 2021-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys8*) in the GNAS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNAS are known to be pathogenic (PMID: 11784876, 23281139, 23796510, 25802881). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Albright hereditary osteodystrophy and/or pseudohypoparathyroidism (PMID: 12970262, 21525160, 27871293, 29059381). For these reasons, this variant has been classified as Pathogenic.

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