ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.146T>G (p.Val49Gly)

dbSNP: rs780343756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687164 SCV000814716 uncertain significance Fanconi anemia 2018-05-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces valine with glycine at codon 49 of the FANCD2 protein (p.Val49Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs780343756, ExAC 0.002%). This variant has not been reported in the literature in individuals with FANCD2-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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