ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)

gnomAD frequency: 0.00009  dbSNP: rs373147908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245387 SCV001418672 uncertain significance Fanconi anemia 2023-08-19 criteria provided, single submitter clinical testing 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 expected to disrupt FANCA protein function. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 759 of the FANCA protein (p.Pro759Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 969927). 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 RCV002484366 SCV002791542 uncertain significance Fanconi anemia complementation group A 2021-12-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001245387 SCV002092617 uncertain significance Fanconi anemia 2020-09-23 no assertion criteria provided clinical testing

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