ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.652G>C (p.Glu218Gln)

gnomAD frequency: 0.00001  dbSNP: rs747819351
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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 RCV000463625 SCV000547733 uncertain significance Fanconi anemia 2016-06-27 criteria provided, single submitter clinical testing The frequency data for this variant (rs747819351) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This sequence change replaces glutamic acid with glutamine at codon 218 of the FANCB protein (p.Glu218Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002480393 SCV002790689 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-01-05 criteria provided, single submitter clinical testing

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