ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1920A>C (p.Gln640His)

gnomAD frequency: 0.00048  dbSNP: rs140452766
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706222 SCV000835261 uncertain significance Fanconi anemia 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 640 of the FANCD2 protein (p.Gln640His). This variant is present in population databases (rs140452766, gnomAD 0.1%). 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: 582213). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCD2 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.
Baylor Genetics RCV001332746 SCV001525153 uncertain significance Fanconi anemia complementation group D2 2019-04-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001332746 SCV002782691 uncertain significance Fanconi anemia complementation group D2 2022-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536406 SCV003677106 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.1920A>C (p.Q640H) alteration is located in exon 21 (coding exon 20) of the FANCD2 gene. This alteration results from a A to C substitution at nucleotide position 1920, causing the glutamine (Q) at amino acid position 640 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692192 SCV005187510 uncertain significance not provided criteria provided, single submitter not provided

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