ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)

gnomAD frequency: 0.00052  dbSNP: rs141141752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459636 SCV000558526 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293002 SCV001481728 uncertain significance Fanconi anemia complementation group D2 2020-12-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001821327 SCV002070978 uncertain significance not specified 2021-05-24 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCD2 gene demonstrated a sequence change, c.1130A>G, in exon 14 that results in an amino acid change, p.His377Arg. This sequence change has been described in gnomAD with a frequency of 0.23% in the African/American sub-population (dbSNP rs141141752). The p.His377Arg change affects a moderately conserved amino acid residue located in a domain of the FANCD2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.His377Arg substitution. This sequence change does not appear to have been previously described in patients with FANCD2-related disorders. Due to the lack of sufficient evidences, the clinical significance of the p.His377Arg change remains unknown at this time.

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