ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.88G>A (p.Val30Ile)

gnomAD frequency: 0.00002  dbSNP: rs1160471115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235093 SCV001407759 uncertain significance Fanconi anemia 2022-09-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 30 of the FANCA protein (p.Val30Ile). This variant is not present in population databases (gnomAD no frequency). 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: 961409). 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 tolerated. 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.
Natera, Inc. RCV001235093 SCV002093144 uncertain significance Fanconi anemia 2020-03-18 no assertion criteria provided clinical testing

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