ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.435+1G>A (rs1555889131)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623168 SCV000741652 pathogenic Inborn genetic diseases 2016-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneReviews RCV000515760 SCV000611855 pathogenic Pseudopseudohypoparathyroidism 2017-01-25 no assertion criteria provided literature only
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000515760 SCV000623565 pathogenic Pseudopseudohypoparathyroidism 2017-12-20 criteria provided, single submitter clinical testing The c.2361+1G>A splice-site variant affects the canonical splice donor site of intron 5 and is thus predicted to be a loss of function mutation. It has been reported as a de novo heterozygous change in a patient with pseudopseudohypoparathyroidism (Wilson et al, 1997) and is absent from the ExAC and gnomAD population databases. Sanger sequencing of the parental samples was negative for the variant indicating that this variant likely represents a de novo change in the patient. However, low level parental mosaicism cannot be excluded. Based on the combined evidence, c.2361+1G>A is classified as a pathogenic variant.

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