ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr)

gnomAD frequency: 0.00011  dbSNP: rs372430349
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592272 SCV000702008 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001302577 SCV001491791 likely benign FGFR2-related craniosynostosis 2024-09-15 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV002245031 SCV002515327 uncertain significance FGFR2-realated disorder 2022-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483578 SCV002785445 uncertain significance Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer 2021-10-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737855 SCV005344725 uncertain significance FGFR2-related disorder 2024-06-06 no assertion criteria provided clinical testing The FGFR2 c.289G>A variant is predicted to result in the amino acid substitution p.Ala97Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of African descent in gnomAD. 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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