ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val)

gnomAD frequency: 0.00002  dbSNP: rs757846343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002006679 SCV002296835 uncertain significance FGFR2-related craniosynostosis 2021-05-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FGFR2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant is present in population databases (rs757846343, ExAC 0.01%). This sequence change replaces alanine with valine at codon 362 of the FGFR2 protein (p.Ala362Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Fulgent Genetics, Fulgent Genetics RCV005002769 SCV002785474 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 2024-01-22 criteria provided, single submitter clinical testing

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