ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) (rs121913112)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286715 SCV001473329 uncertain significance none provided 2019-09-12 criteria provided, single submitter clinical testing The FGFR3 c.1537G>A; p.Asp513Asn variant (rs121913112) is reported in the literature in a family affected with lacrimo-auriculo-dento-digital syndrome (Rohmann 2006). This variant co-segregated with disease in this family and was not observed in either parent of the oldest affected individual, suggesting a de novo origin (Rohmann 2006). This variant is found in the general population with an overall allele frequency of 0.005% (13/281908 alleles) in the Genome Aggregation Database. The aspartate at codon 513 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. However, given the lack of clinical and functional data, the significance of the p.Asp513Asn variant is uncertain at this time. References: Rohmann E et al. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006 Apr;38(4):414-7.
OMIM RCV000017764 SCV000038042 pathogenic Levy-Hollister syndrome 2006-04-01 no assertion criteria provided literature only

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