Submissions for variant NM_001018115.3(FANCD2):c.1810G>A (p.Asp604Asn)

gnomAD frequency: 0.00004  dbSNP: rs145170666

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227372	SCV000291155	uncertain significance	Fanconi anemia	2022-02-20	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 604 of the FANCD2 protein (p.Asp604Asn). This variant is present in population databases (rs145170666, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 241733). 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 asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237795	SCV002009078	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001762548	SCV002782678	uncertain significance	Fanconi anemia complementation group D2	2021-10-14	criteria provided, single submitter	clinical testing