ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.730G>A (p.Val244Met) (rs746248064)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459721 SCV000547704 uncertain significance Fanconi anemia 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 244 of the FANCG protein (p.Val244Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs746248064, ExAC 0.1%) but has not been reported in the literature in individuals with a FANCG-related disease. 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. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764834 SCV000895990 uncertain significance Fanconi anemia, complementation group G 2018-10-31 criteria provided, single submitter clinical testing

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