ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)

gnomAD frequency: 0.00001  dbSNP: rs199938598
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535221 SCV000626162 uncertain significance Fanconi anemia 2023-06-04 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 456093). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is present in population databases (rs199938598, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 737 of the FANCA protein (p.Ala737Val).
Fulgent Genetics, Fulgent Genetics RCV002483352 SCV002793133 uncertain significance Fanconi anemia complementation group A 2022-03-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000535221 SCV002092626 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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