ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)

gnomAD frequency: 0.00005  dbSNP: rs552813440
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002498565 SCV002795473 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 2021-09-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528827 SCV004112707 uncertain significance GNAS-related disorder 2023-12-01 criteria provided, single submitter clinical testing The GNAS c.1462G>A variant is predicted to result in the amino acid substitution p.Ala488Thr. This variant is located in the pre-coding region of the primary GNAS transcript (NM_000516:c.-37000G>A). This variant has been reported in a healthy, ancestrally diverse cohort (Table S1, Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.022% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-57429782-G-A). Although we suspect this variant may be benign, at this time, the clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000121178 SCV000085346 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573945 SCV001800547 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573945 SCV001964154 likely benign not provided no assertion criteria provided clinical testing

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