ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser)

gnomAD frequency: 0.00001  dbSNP: rs962103382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925586 SCV002180350 uncertain significance FGFR2-related craniosynostosis 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 662 of the FGFR2 protein (p.Asn662Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FGFR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1412875). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005002663 SCV002776276 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 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV004720976 SCV005326821 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004975861 SCV005585484 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The c.1985A>G (p.N662S) alteration is located in exon 14 (coding exon 13) of the FGFR2 gene. This alteration results from a A to G substitution at nucleotide position 1985, causing the asparagine (N) at amino acid position 662 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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