ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.1033_1035dup (p.Glu345dup) (rs1569031518)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV000758195 SCV000886726 uncertain significance Pseudohypoparathyroidism type 1B 2019-01-23 criteria provided, single submitter clinical testing This GNAS variant is absent from large population datasets and has not been reported in the literature to our knowledge. Bioinformatic analysis predicts that this in-frame duplication variant would not affect normal exon 12 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, the clinical significance of c.1030_1032dupGAG is uncertain at this time.

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