ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)

gnomAD frequency: 0.00002  dbSNP: rs201672093
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546220 SCV000626160 uncertain significance Fanconi anemia 2022-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 698 of the FANCA protein (p.Glu698Asp). This variant is present in population databases (rs201672093, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 456091). 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 FANCA 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.
Fulgent Genetics, Fulgent Genetics RCV002476089 SCV002783605 uncertain significance Fanconi anemia complementation group A 2022-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525284 SCV003693208 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.2094G>C (p.E698D) alteration is located in exon 23 (coding exon 23) of the FANCA gene. This alteration results from a G to C substitution at nucleotide position 2094, causing the glutamic acid (E) at amino acid position 698 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003128623 SCV003805021 uncertain significance not provided 2022-08-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000546220 SCV002092640 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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