ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.67C>A (p.Pro23Thr)

gnomAD frequency: 0.00001  dbSNP: rs1309596973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768053 SCV002008419 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV005038306 SCV005665438 uncertain significance Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss 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; LADD syndrome 1 2024-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV005330906 SCV006006161 uncertain significance Inborn genetic diseases 2024-12-23 criteria provided, single submitter clinical testing The c.67C>A (p.P23T) alteration is located in exon 2 (coding exon 1) of the FGFR2 gene. This alteration results from a C to A substitution at nucleotide position 67, causing the proline (P) at amino acid position 23 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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