ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)

dbSNP: rs767104257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197837 SCV001368617 likely benign Pseudohypoparathyroidism type 1B 2018-10-30 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PP2,BP4,BP7.
Fulgent Genetics, Fulgent Genetics RCV002497679 SCV002813655 likely benign McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A 2021-12-24 criteria provided, single submitter clinical testing
New York Genome Center RCV003227930 SCV003925244 uncertain significance Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type I A 2022-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528410 SCV004104005 uncertain significance GNAS-related disorder 2023-07-27 criteria provided, single submitter clinical testing The GNAS c.1276G>C variant is predicted to result in the amino acid substitution p.Ala426Pro. This variant has been observed in an individual from a cohort of patients with inherited platelet disorders (Table 5, Bastida et al. 2018. PubMed ID: 28983057). This variant is reported in 0.0082% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-57429596-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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