ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1719G>T (p.Glu573Asp)

gnomAD frequency: 0.00001  dbSNP: rs773221142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222930 SCV001395054 uncertain significance Fanconi anemia 2021-01-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The aspartic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCB-related conditions. This variant is present in population databases (rs773221142, ExAC 0.01%). This sequence change replaces glutamic acid with aspartic acid at codon 573 of the FANCB protein (p.Glu573Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.
Fulgent Genetics, Fulgent Genetics RCV002484210 SCV002801451 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-03-27 criteria provided, single submitter clinical testing

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