ClinVar Miner

Submissions for variant NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)

gnomAD frequency: 0.00004  dbSNP: rs201342585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902012 SCV001046411 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479036 SCV002802027 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 2021-09-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004735876 SCV005350122 uncertain significance GNAS-related disorder 2024-08-26 no assertion criteria provided clinical testing The GNAS c.958G>A variant is predicted to result in the amino acid substitution p.Asp320Asn. This variant occurs in the pre-coding region of the primary GNAS transcript (NM_000516:c.-37504G>A). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant is benign, 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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