ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.754_761del (p.Ser252fs)

dbSNP: rs2086303843
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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 RCV001253618 SCV001429442 likely pathogenic Pseudohypoparathyroidism 2018-09-12 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255350 SCV001431680 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.567_574del, p.(Ala190Phefs*784) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.

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