ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala)

dbSNP: rs369232922
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001257458 SCV001429640 uncertain significance Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2 2020-08-01 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 3 of the FGFR3 gene that results in the amino acid substitution of Alanine for Glycine at codon 67 was detected. The observed variant c.200G>C (p.Gly67Ala) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is benign by PolyPhen-2 (HumDiv), SIFT and MutationTaster2. The reference codon is conserved across mammals. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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