ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.2444G>A (p.Arg815Gln) (rs766567785)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234321 SCV000291157 pathogenic Fanconi anemia 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 815 of the FANCD2 protein (p.Arg815Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs766567785, ExAC 0.1%). This variant has been reported in several individuals affected with Fanconi anemia (PMID: 17436244, 27041517). In three of the cases, this variant occurs with a different pathogenic variant in FANCD2, although it is unknown if the two variants are on the same or opposite chromosomes in these individuals. Two additional cases from the same family were reported to be homozygous for this missense change (PMID: 17436244). Finally, this variant has also been shown to occur in trans with a pathogenic FANCD2 variant in a Fanconi anemia patient (Invitae database). ClinVar contains an entry for this variant (Variation ID: 241735). 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 disruptive, but these predictions have not been confirmed by published functional studies. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001194923 SCV001364788 pathogenic Fanconi anemia, complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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