ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.658del (p.His220fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338035 SCV004048582 likely pathogenic Pseudohypoparathyroidism type I A criteria provided, single submitter clinical testing The frameshift variant c.2587del (p.His863ThrfsTer22) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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