ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.200G>A (p.Gly67Asp) (rs369232922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658073 SCV000779844 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing The G67D variant in the FGFR3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The G67D variant is observed in 61/30,754 (0.198%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The G67D variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret G67D as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765768 SCV000897156 uncertain significance Achondroplasia; Camptodactyly, tall stature, and hearing loss syndrome; Carcinoma of cervix; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Bladder cancer, somatic; Hypochondroplasia; Epidermal nevus; Severe achondroplasia with developmental delay and acanthosis nigricans; Malignant tumor of testis; Carcinoma of colon 2018-10-31 criteria provided, single submitter clinical testing

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