ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.532C>T (p.Arg178Cys)

gnomAD frequency: 0.00001  dbSNP: rs974173968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002688368 SCV003545951 uncertain significance Inborn genetic diseases 2022-01-31 criteria provided, single submitter clinical testing The c.532C>T (p.R178C) alteration is located in exon 5 (coding exon 4) of the FGFR2 gene. This alteration results from a C to T substitution at nucleotide position 532, causing the arginine (R) at amino acid position 178 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036537 SCV005670155 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 2024-02-19 criteria provided, single submitter clinical testing

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